Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZNF133	7692	broad.mit.edu	37	20	18297168	18297168	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:18297168G>T	ENST00000377671.3	+	7	2229	c.1670G>T	c.(1669-1671)gGc>gTc	p.G557V	ZNF133_ENST00000396026.3_Missense_Mutation_p.G561V|ZNF133_ENST00000316358.4_Missense_Mutation_p.G558V|ZNF133_ENST00000402618.2_Missense_Mutation_p.G495V|ZNF133_ENST00000538547.1_Missense_Mutation_p.G463V|ZNF133_ENST00000535822.1_Missense_Mutation_p.G463V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.G558V	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	558						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G557V(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TGTGGACTGGGCTTTGGCAAT	0.562000													11	29					2.80697e-09	3.80217e-09	0.010729	1	0
MCTP2	55784	broad.mit.edu	37	15	95001411	95001411	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:95001411G>C	ENST00000357742.4	+	19	2296	c.2296G>C	c.(2296-2298)Gat>Cat	p.D766H	MCTP2_ENST00000451018.3_Missense_Mutation_p.D711H	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	766					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.D766H(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TATGGTACAGGATATTGTTTC	0.328000													16	49					0	0	0.004990	0	0
KRT5	3852	broad.mit.edu	37	12	52913777	52913777	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:52913777C>T	ENST00000252242.4	-	1	694	c.304G>A	c.(304-306)Ggt>Agt	p.G102S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	102	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.G102S(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		aatccactaccggcaccacct	0.622000													5	69					0	0	0.014758	0	0
TTLL12	23170	broad.mit.edu	37	22	43576790	43576790	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:43576790C>T	ENST00000216129.6	-	3	567	c.504G>A	c.(502-504)gaG>gaA	p.E168E		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	168					protein modification process		tubulin-tyrosine ligase activity	p.E168E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TCCACATCTCCTCCAGCACCA	0.657000													38	69					0	0	0.027894	0	0
KIF26B	55083	broad.mit.edu	37	1	245582977	245582977	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:245582977G>A	ENST00000407071.2	+	4	1536	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	366					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A366T(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGTGTCCCAGCCTCGCAGGG	0.582000													14	65					0	0	0.020292	0	0
RHEB	6009	broad.mit.edu	37	7	151174502	151174502	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:151174502C>A	ENST00000262187.5	-	4	605		c.e4-1		RHEB_ENST00000472642.1_Splice_Site|RHEB_ENST00000496004.1_Splice_Site	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain						cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding	p.?(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AATATTCATCCTGTGGGGAAA	0.333000													29	89					9.78306e-22	1.75322e-21	0.009535	1	0
LRRC7	57554	broad.mit.edu	37	1	70505179	70505179	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:70505179G>A	ENST00000310961.5	+	22	3991	c.3573G>A	c.(3571-3573)gcG>gcA	p.A1191A	LRRC7_ENST00000035383.5_Silent_p.A1186A|LRRC7_ENST00000415775.2_Silent_p.A470A			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1186						centrosome|focal adhesion|nucleolus	protein binding	p.A1186A(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAGCTCAGGCGGGAAGTTTTC	0.488000													6	26					0	0	0.021553	0	0
LINS	55180	broad.mit.edu	37	15	101112154	101112154	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:101112154C>A	ENST00000314742.8	-	6	1561	c.1339G>T	c.(1339-1341)Gat>Tat	p.D447Y		NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	447								p.D447Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AGCATGTCATCGTCTTGTTCT	0.448000													23	65					1.10923e-09	1.52428e-09	0.016522	1	0
OR2C3	81472	broad.mit.edu	37	1	247695185	247695185	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:247695185A>T	ENST00000366487.3	-	2	990	c.629T>A	c.(628-630)cTg>cAg	p.L210Q	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L209Q(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CCCCAGAGGCAGGACAACAAA	0.532000													8	22					0	0	0.003080	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181958	140181958	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:140181958C>T	ENST00000522353.2	+	1	1176	c.1176C>T	c.(1174-1176)caC>caT	p.H392H	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.H392H|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.H392H(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCCCCACGTCCCCTTCA	0.567000													54	63					0	0	0.014410	0	0
EIF4G2	1982	broad.mit.edu	37	11	10820818	10820818	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:10820818T>C	ENST00000526148.1	-	20	2988	c.2478A>G	c.(2476-2478)ctA>ctG	p.L826L	EIF4G2_ENST00000396525.2_Silent_p.L788L|EIF4G2_ENST00000525681.1_Silent_p.L826L|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.L826L	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	826	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.L826L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CACTGACTTGTAGATCAACGT	0.438000													31	54					0	0	0.019004	0	0
SCN9A	6335	broad.mit.edu	37	2	167060953	167060953	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:167060953T>A	ENST00000375387.4	-	25	4763	c.4423A>T	c.(4423-4425)Atg>Ttg	p.M1475L	SCN9A_ENST00000409435.1_Missense_Mutation_p.M1474L|SCN9A_ENST00000409672.1_Missense_Mutation_p.M1463L|SCN9A_ENST00000303354.6_Missense_Mutation_p.M1475L|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1474			T -> I (in PEPD; reduction in fast inactivation leading to persistent sodium current).			voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.M1463L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTTCTGTCATAAAGATGTCT	0.323000													6	31					0	0	0.021553	0	0
CD22	933	broad.mit.edu	37	19	35829249	35829249	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:35829249C>G	ENST00000085219.5	+	6	1230	c.1164C>G	c.(1162-1164)ccC>ccG	p.P388P	CD22_ENST00000536635.2_Intron|CD22_ENST00000594250.1_Intron|CD22_ENST00000270311.6_Silent_p.P268P|CD22_ENST00000419549.2_Silent_p.P216P|CD22_ENST00000544992.2_Silent_p.P388P|CD22_ENST00000341773.6_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	388	Ig-like C2-type 3.				cell adhesion		protein binding|sugar binding	p.P388P(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGATCCTCCCCTGGCACGCTG	0.532000													6	84					0	0	0.021553	0	0
GJA1	2697	broad.mit.edu	37	6	121769099	121769099	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:121769099G>A	ENST00000282561.3	+	2	1263	c.1106G>A	c.(1105-1107)aGt>aAt	p.S369N		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	369					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.S369N(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	AGAGCCAGCAGTCGTGCCAGC	0.483000													16	45					0	0	0.006122	0	0
PCDH8	5100	broad.mit.edu	37	13	53420300	53420300	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:53420300C>A	ENST00000377942.3	-	1	2475	c.2272G>T	c.(2272-2274)Ggg>Tgg	p.G758W	PCDH8_ENST00000338862.4_Missense_Mutation_p.G758W	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	758					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.G758W(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GTGCAGCTCCCGGCCAGCACG	0.701000													37	27					2.40579e-17	4.10007e-17	0.025465	1	0
OR4K13	390433	broad.mit.edu	37	14	20502863	20502863	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:20502863T>A	ENST00000315693.2	-	1	56	c.55A>T	c.(55-57)Aaa>Taa	p.K19*		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K19*(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTTGAGATTTGGAAAGTCCC	0.383000													18	30					0	0	0.008871	0	0
COL11A1	1301	broad.mit.edu	37	1	103343713	103343713	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:103343713T>A	ENST00000358392.2	-	67	5636	c.5319A>T	c.(5317-5319)aaA>aaT	p.K1773N	COL11A1_ENST00000512756.1_Missense_Mutation_p.K1645N|COL11A1_ENST00000370096.3_Missense_Mutation_p.K1761N|COL11A1_ENST00000353414.4_Missense_Mutation_p.K1722N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1761	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.K1773N(1)|p.K1761N(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCATAGCCTTTTCTGGACT	0.303000													4	18					0	0	0.009096	0	0
CEP164	22897	broad.mit.edu	37	11	117209310	117209310	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:117209310G>C	ENST00000278935.3	+	3	155	c.8G>C	c.(7-9)gGa>gCa	p.G3A		NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	3	Interaction with ATRIP.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		p.G3A(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GTCATGGCTGGACGACCCCTC	0.502000													17	51					0	0	0.004990	0	0
CLIC2	1193	broad.mit.edu	37	X	154507270	154507270	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:154507270A>G	ENST00000369449.2	-	6	884	c.666T>C	c.(664-666)cgT>cgC	p.R222R	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	222	C-terminal.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	p.R222R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAAATTCTTCACGGGCATAGG	0.413000													15	136					0	0	0.004990	0	0
PAM	5066	broad.mit.edu	37	5	102260668	102260668	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:102260668G>T	ENST00000438793.3	+	5	834	c.364G>T	c.(364-366)Gat>Tat	p.D122Y	PAM_ENST00000346918.2_Missense_Mutation_p.D122Y|PAM_ENST00000455264.2_Missense_Mutation_p.D122Y|PAM_ENST00000274392.9_Missense_Mutation_p.D25Y|PAM_ENST00000348126.2_Missense_Mutation_p.D122Y|PAM_ENST00000304400.7_Missense_Mutation_p.D122Y|PAM_ENST00000379787.4_5'UTR	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	122	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	p.D122Y(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CAGGTTTTGTGATGAAGGAAC	0.438000													31	33					1.61788e-16	2.71294e-16	0.012213	1	0
ZNF438	220929	broad.mit.edu	37	10	31138374	31138374	+	Splice_Site	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:31138374T>A	ENST00000375311.1	-	6	467		c.e6-2		ZNF438_ENST00000413025.1_Silent_p.P320P|ZNF438_ENST00000442986.1_Silent_p.P320P|ZNF438_ENST00000331737.6_Silent_p.P310P|ZNF438_ENST00000444692.2_Silent_p.P310P|ZNF438_ENST00000538351.1_Silent_p.P271P|ZNF438_ENST00000361310.3_Silent_p.P320P|ZNF438_ENST00000436087.2_Silent_p.P320P|ZNF438_ENST00000452305.1_Silent_p.P310P			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P320P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CCTTAGGTCCTGGTAAAGAAA	0.473000													36	80					0	0	0.013726	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89417278	89417278	+	RNA	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:89417278C>A	ENST00000490686.1	-	0	57																											AGCAGGAGCCCCAGGAGCTGA	0.527000													60	195					3.30226e-22	5.95892e-22	0.014410	1	0
LPPR5	163404	broad.mit.edu	37	1	99418782	99418782	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:99418782A>T	ENST00000370188.3	-	3	825	c.465T>A	c.(463-465)tgT>tgA	p.C155*	LPPR5_ENST00000263177.4_Nonsense_Mutation_p.C155*	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		155						integral to membrane	hydrolase activity	p.C155*(1)									AATTGGGCTTACACAGGGCAA	0.458000													20	54					0	0	0.018920	0	0
COL22A1	169044	broad.mit.edu	37	8	139606332	139606332	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:139606332C>A	ENST00000303045.6	-	63	4989	c.4543G>T	c.(4543-4545)Ggc>Tgc	p.G1515C	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1495C|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1515	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G1515C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCATGGGGCCGGCCCGGCCT	0.652000										HNSCC(7;0.00092)			11	66					3.86212e-05	4.45596e-05	0.008291	1	0
L1CAM	3897	broad.mit.edu	37	X	153137773	153137773	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:153137773G>T	ENST00000370060.1	-	5	423	c.234C>A	c.(232-234)ccC>ccA	p.P78P	L1CAM_ENST00000361981.3_Silent_p.P73P|L1CAM_ENST00000370055.1_Silent_p.P73P|L1CAM_ENST00000370057.3_Silent_p.P78P|L1CAM_ENST00000361699.4_Silent_p.P78P|L1CAM_ENST00000543994.1_Silent_p.P80P|L1CAM_ENST00000538883.1_Silent_p.P80P	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	78	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.P78P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTTCCTTGGGTTTGAAGT	0.607000													32	20					2.48696e-23	4.57477e-23	0.015359	1	0
RYR3	6263	broad.mit.edu	37	15	34015043	34015043	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:34015043G>C	ENST00000389232.4	+	44	6817	c.6747G>C	c.(6745-6747)aaG>aaC	p.K2249N	RYR3_ENST00000415757.3_Missense_Mutation_p.K2249N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2249	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.K2249N(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGCCATTAAGATCTCTGAGA	0.577000													43	54					0	0	0.013114	0	0
SATL1	340562	broad.mit.edu	37	X	84362769	84362769	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:84362769G>T	ENST00000509231.1	-	1	1285	c.1206C>A	c.(1204-1206)agC>agA	p.S402R	SATL1_ENST00000332921.5_Missense_Mutation_p.S215R|SATL1_ENST00000395409.3_Missense_Mutation_p.S215R			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	215	N-acetyltransferase.						N-acetyltransferase activity	p.S402R(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TGCCTGATTGGCTGGTGCCTA	0.537000													11	61					0.00010058	0.00011378	0.013537	1	0
CRHR1	1394	broad.mit.edu	37	17	43906640	43906640	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:43906640C>T	ENST00000314537.5	+	5	612	c.387C>T	c.(385-387)atC>atT	p.I129I	CRHR1_ENST00000339069.5_Silent_p.I28I|CRHR1_ENST00000577353.1_Silent_p.I129I|CRHR1_ENST00000398285.3_Silent_p.I129I|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000352855.5_Silent_p.I89I	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	129					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.I129I(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GCCACTGTATCTCCCTGGTGG	0.582000													10	25					0	0	0.008291	0	0
ZNF572	137209	broad.mit.edu	37	8	125989981	125989981	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:125989981G>T	ENST00000319286.5	+	3	1625	c.1471G>T	c.(1471-1473)Gta>Tta	p.V491L		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V491L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GAAAATTCACGTAGAAAAGCC	0.468000										HNSCC(60;0.17)			72	74					1.2647e-45	2.49827e-45	0.014410	1	0
KLK4	9622	broad.mit.edu	37	19	51411735	51411735	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:51411735C>A	ENST00000324041.1	-	4	491	c.492G>T	c.(490-492)gtG>gtT	p.V164V	KLK4_ENST00000431178.2_Intron	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	164	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.V164V(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CGCACTGCAGCACGGTAGGCA	0.642000													34	43					3.11337e-16	5.1956e-16	0.013726	1	0
ZNF619	285267	broad.mit.edu	37	3	40529172	40529172	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:40529172C>A	ENST00000447116.2	+	6	1598	c.1291C>A	c.(1291-1293)Cag>Aag	p.Q431K	ZNF619_ENST00000429348.2_Missense_Mutation_p.Q391K|ZNF619_ENST00000456778.1_Missense_Mutation_p.Q347K|ZNF619_ENST00000521353.1_Missense_Mutation_p.Q431K|ZNF619_ENST00000522736.1_Missense_Mutation_p.Q382K|ZNF619_ENST00000314686.5_Missense_Mutation_p.Q375K|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Missense_Mutation_p.Q391K	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	431					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.Q375K(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TCTTCAGCACCAGAGGTTCCA	0.458000													38	29					1.30015e-28	2.45662e-28	0.021022	1	0
USH2A	7399	broad.mit.edu	37	1	216219923	216219923	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:216219923C>A	ENST00000366943.2	-	32	6561	c.6175G>T	c.(6175-6177)Gtt>Ttt	p.V2059F	USH2A_ENST00000307340.3_Missense_Mutation_p.V2059F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2059	Fibronectin type-III 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.V2059F(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTGGCTGAACCTCTTGTGGG	0.378000										HNSCC(13;0.011)			11	48					1.5842e-08	2.08101e-08	0.016723	1	0
TSIX	9383	broad.mit.edu	37	X	73048820	73048820	+	RNA	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:73048820C>A	ENST00000604411.1	+	0	36781				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ACCAACACACCCCATCCAACA	0.428000													16	12					6.31663e-08	8.15376e-08	0.024245	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204198174	204198174	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:204198174C>A	ENST00000272203.3	-	19	2958	c.2642G>T	c.(2641-2643)cGg>cTg	p.R881L	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R901L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	881								p.R881L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTCCTCTGCCCGCAGGGCTGC	0.617000													7	44					5.18039e-06	6.2392e-06	0.003080	1	0
PSMD10	5716	broad.mit.edu	37	X	107331000	107331000	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:107331000G>T	ENST00000217958.3	-	4	540	c.443C>A	c.(442-444)gCc>gAc	p.A148D	PSMD10_ENST00000372296.1_Missense_Mutation_p.A107D|PSMD10_ENST00000340200.5_Missense_Mutation_p.A115D|PSMD10_ENST00000361815.5_Missense_Mutation_p.A148D|PSMD10_ENST00000372295.1_Missense_Mutation_p.A107D	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	148	Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding	p.A148D(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTTACCCTTGGCTGCTGCCCG	0.473000													39	119					4.67007e-22	8.39807e-22	0.008740	1	0
PICK1	9463	broad.mit.edu	37	22	38468617	38468617	+	Splice_Site	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:38468617G>A	ENST00000404072.3	+	9	1037	c.690_splice	c.e9+1	p.P230_splice	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Splice_Site_p.P230_splice	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	230	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	p.P230P(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CCATCAAGCCGGTAGGTCCTA	0.592000													21	60					0	0	0.024334	0	0
RNF10	9921	broad.mit.edu	37	12	121001251	121001251	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:121001251G>A	ENST00000325954.4	+	9	1817	c.1356G>A	c.(1354-1356)gaG>gaA	p.E452E	RNF10_ENST00000413266.2_Silent_p.E457E	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	452					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	p.E452E(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGAAGAGGAGGAAGCAGTGT	0.507000													20	58					0	0	0.010504	0	0
CASK	8573	broad.mit.edu	37	X	41495914	41495914	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:41495914C>A	ENST00000318588.9	-	9	877	c.831_splice	c.e9-1	p.E278_splice	CASK_ENST00000361962.4_Splice_Site_p.E278_splice|CASK_ENST00000378158.1_Splice_Site_p.E278_splice|CASK_ENST00000378163.1_Splice_Site_p.E278_splice|CASK_ENST00000421587.2_Splice_Site_p.E278_splice|CASK_ENST00000378154.1_Splice_Site_p.E278_splice|CASK_ENST00000378166.4_Splice_Site_p.E278_splice|CASK_ENST00000442742.2_Splice_Site_p.E278_splice			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	278					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	p.E278*(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CGATCCCGCTCCTATGTAAGA	0.313000													16	57					1.99824e-07	2.5232e-07	0.004990	1	0
BRINP2	57795	broad.mit.edu	37	1	177250308	177250308	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:177250308C>A	ENST00000361539.4	+	8	2308	c.1996C>A	c.(1996-1998)Ctg>Atg	p.L666M	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		666						extracellular region		p.L666M(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTATGAGCCCCTGGAGATGAC	0.468000													12	78					3.07112e-06	3.72462e-06	0.010729	1	0
LRP1B	53353	broad.mit.edu	37	2	141291702	141291702	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:141291702T>A	ENST00000389484.3	-	47	8621	c.7650A>T	c.(7648-7650)agA>agT	p.R2550S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2550					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R2550S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCGACAGCTTCTGTTTTCTT	0.353000										TSP Lung(27;0.18)			9	22					0	0	0.008291	0	0
DNAH10	196385	broad.mit.edu	37	12	124268652	124268652	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:124268652C>A	ENST00000409039.3	+	8	1000	c.975C>A	c.(973-975)acC>acA	p.T325T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	325	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T325T(1)|p.T143T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTGTTCACCGAGTTATTCA	0.488000													38	64					2.66277e-13	4.16381e-13	0.027894	1	0
LIN37	55957	broad.mit.edu	37	19	36245208	36245208	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:36245208G>C	ENST00000301159.9	+	8	1011	c.647G>C	c.(646-648)cGc>cCc	p.R216P	AC002398.9_ENST00000591613.2_3'UTR	NM_019104.2	NP_061977.1	Q96GY3	LIN37_HUMAN	lin-37 homolog (C. elegans)	216							protein binding	p.R216P(1)		large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCTGGAAACGCATCCGCCAG	0.637000													39	49					0	0	0.025465	0	0
PTCHD2	57540	broad.mit.edu	37	1	11591678	11591678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:11591678G>T	ENST00000294484.6	+	17	3424	c.3286G>T	c.(3286-3288)Gag>Tag	p.E1096*	PTCHD2_ENST00000389575.3_Nonsense_Mutation_p.E1096*	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1096					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.E1313*(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGAGCTGCCCGAGCCCAACCT	0.662000													14	28					1.52009e-12	2.32471e-12	0.024245	1	0
MAP2	4133	broad.mit.edu	37	2	210574774	210574774	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:210574774C>T	ENST00000360351.4	+	12	5375	c.4869C>T	c.(4867-4869)ccC>ccT	p.P1623P	MAP2_ENST00000199940.6_Silent_p.P324P|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Silent_p.P1619P|MAP2_ENST00000392194.1_Silent_p.P267P|MAP2_ENST00000361559.4_Silent_p.P267P	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1623					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.P324P(1)|p.P1623P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTAGCTATCCCAGGACCCCTC	0.572000													3	74					0	0	0.004672	0	0
PPP6R1	22870	broad.mit.edu	37	19	55748126	55748126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:55748126C>A	ENST00000412770.2	-	17	2439	c.1873G>T	c.(1873-1875)Gaa>Taa	p.E625*	PPP6R1_ENST00000587283.1_Nonsense_Mutation_p.E625*	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	625	Glu-rich.|Poly-Glu.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	p.E625*(1)		breast(1)	1						TCCTCCTCTTCCTCATCATCA	0.632000													17	50					1.02788e-11	1.51638e-11	0.004990	1	0
NOL4	8715	broad.mit.edu	37	18	31599524	31599524	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:31599524C>A	ENST00000261592.5	-	6	1111	c.814G>T	c.(814-816)Ggg>Tgg	p.G272W	NOL4_ENST00000535475.1_Missense_Mutation_p.G117W|NOL4_ENST00000589544.1_Missense_Mutation_p.G272W|NOL4_ENST00000269185.4_Missense_Mutation_p.G158W|NOL4_ENST00000538587.1_Missense_Mutation_p.G198W|NOL4_ENST00000535384.1_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	272						nucleolus	RNA binding	p.G272W(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GAACTGTGCCCCAGAGTCTCA	0.433000													12	71					1.15088e-07	1.45852e-07	0.028581	1	0
PDE4B	5142	broad.mit.edu	37	1	66833714	66833714	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:66833714T>A	ENST00000423207.2	+	13	2068	c.1583T>A	c.(1582-1584)gTt>gAt	p.V528D	PDE4B_ENST00000371049.3_Missense_Mutation_p.V543D|PDE4B_ENST00000329654.4_Missense_Mutation_p.V543D|PDE4B_ENST00000480109.2_Missense_Mutation_p.V310D|PDE4B_ENST00000371045.5_Missense_Mutation_p.V371D	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	543					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.V543D(1)|p.V528D(1)|p.V371D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AGTTCAGGCGTTCTTCTCCTA	0.383000													6	41					0	0	0.001984	0	0
SASS6	163786	broad.mit.edu	37	1	100588014	100588014	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:100588014A>C	ENST00000287482.5	-	4	373	c.233T>G	c.(232-234)gTa>gGa	p.V78G	SASS6_ENST00000535161.1_5'UTR|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	78	PISA.				centriole replication	centriole		p.V78G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TAAGAAGTCTACCAGAAGACC	0.308000													8	75					0	0	0.004482	0	0
CNTN3	5067	broad.mit.edu	37	3	74411127	74411127	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:74411127C>G	ENST00000263665.6	-	10	1305	c.1278G>C	c.(1276-1278)ctG>ctC	p.L426L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	426	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.L426L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAAGCTGACCAGGCTGCCCA	0.502000													36	38					0	0	0.021022	0	0
SNAI2	6591	broad.mit.edu	37	8	49832627	49832627	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:49832627G>C	ENST00000396822.1	-	3	810	c.453C>G	c.(451-453)tgC>tgG	p.C151W	SNAI2_ENST00000020945.1_Missense_Mutation_p.C151W			O43623	SNAI2_HUMAN	snail family zinc finger 2	151					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C151W(1)|p.C151C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ACTGGGCATCGCAGTGCAGCT	0.453000													11	90					0	0	0.013537	0	0
CALB2	794	broad.mit.edu	37	16	71392788	71392788	+	Splice_Site	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:71392788C>G	ENST00000302628.4	+	1	170	c.94_splice	c.e1+1	p.D31_splice	CALB2_ENST00000349553.5_Splice_Site_p.D31_splice	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	31	EF-hand 1.						calcium ion binding	p.D31E(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TTGACGCAGACGGTCAGTAAA	0.647000													7	6					0	0	0.001984	0	0
STEAP1B	256227	broad.mit.edu	37	7	22534440	22534440	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:22534440T>C	ENST00000404369.4	-	2	450	c.35A>G	c.(34-36)gAa>gGa	p.E12G	STEAP1B_ENST00000406890.2_Missense_Mutation_p.E12G	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	12						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.E12G(2)		endometrium(1)|kidney(1)|lung(2)	4						TTTCCAAATTTCTTCTTGGTT	0.249000													22	30					0	0	0.021523	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66963823	66963823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:66963823C>A	ENST00000276570.5	+	3	328	c.41C>A	c.(40-42)tCa>tAa	p.S14*	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	14					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.S14*(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CGGACTCTGTCAACAACAGGA	0.403000													31	101					6.38683e-12	9.52999e-12	0.008361	1	0
MMP12	4321	broad.mit.edu	37	11	102738758	102738758	+	RNA	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:102738758G>T	ENST00000532855.1	-	0	763							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S223Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AAGACCTAAGGAATGGCCAAT	0.443000													3	4					1.024e-07	1.31208e-07	0.014758	1	0
CFP	5199	broad.mit.edu	37	X	47485815	47485815	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:47485815C>A	ENST00000247153.3	-	8	1285	c.1044G>T	c.(1042-1044)agG>agT	p.R348S	CFP_ENST00000377005.2_Missense_Mutation_p.R348S|CFP_ENST00000396992.3_Missense_Mutation_p.R348S	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	348	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space		p.R348S(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCCTGCAGGTCCTCCCGCGTG	0.617000													6	22					0.0215528	0.02239	0.021553	1	0
COL4A3	1285	broad.mit.edu	37	2	228119376	228119376	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:228119376T>A	ENST00000396578.3	+	15	995	c.833T>A	c.(832-834)cTg>cAg	p.L278Q	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	278	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.L278Q(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATACAGGGACTGCCTGGAGAA	0.373000													28	70					0	0	0.007291	0	0
DGCR14	8220	broad.mit.edu	37	22	19130301	19130301	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:19130301C>A	ENST00000252137.6	-	2	285	c.242G>T	c.(241-243)cGc>cTc	p.R81L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	81					nervous system development	catalytic step 2 spliceosome		p.R81L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GGCAATCTGGCGCATCCGTTC	0.582000													28	114					9.80776e-20	1.71348e-19	0.006320	1	0
MUC16	94025	broad.mit.edu	37	19	9072943	9072943	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:9072943C>A	ENST00000397910.4	-	3	14706	c.14503G>T	c.(14503-14505)Gtg>Ttg	p.V4835L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4837	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V4835L(2)|p.V468L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTCCCCACATTGGTAACT	0.453000													29	35					4.22769e-11	6.14991e-11	0.006320	1	0
PDCD6IP	10015	broad.mit.edu	37	3	33906811	33906811	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:33906811C>T	ENST00000307296.3	+	17	2698	c.2321C>T	c.(2320-2322)cCa>cTa	p.P774L	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.P779L			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	774	Interaction with EIAV p9.|Pro-rich.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	p.P774L(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GCTACTGCTCCATCTCCAGTG	0.597000													12	29					0	0	0.020292	0	0
BAG3	9531	broad.mit.edu	37	10	121431949	121431949	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:121431949G>A	ENST00000369085.3	+	3	996	c.690G>A	c.(688-690)aaG>aaA	p.K230K		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	230					anti-apoptosis|apoptosis|protein folding	cytosol		p.T231A(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AAGCCCAGAAGACGCACTACC	0.657000													3	64					0	0	0.004672	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956555	16956555	+	RNA	SNP	C	C	T	rs9329440	by1000genomes	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:16956555C>T	ENST00000412962.1	-	0	294																											CTCTAGGGCCCGCCGCTCACT	0.607000													4	29					0	0	0.014758	0	0
IGF1R	3480	broad.mit.edu	37	15	99465614	99465614	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:99465614G>C	ENST00000268035.6	+	11	3050	c.2439G>C	c.(2437-2439)ctG>ctC	p.L813L	IGF1R_ENST00000558762.1_Silent_p.L813L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	813					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.L813L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTGAGAAGCTGGGCTGCAGCG	0.532000													15	53					0	0	0.007413	0	0
GNAI3	2773	broad.mit.edu	37	1	110134684	110134684	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:110134684G>T	ENST00000369851.4	+	8	1004	c.894G>T	c.(892-894)gaG>gaT	p.E298D		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	298					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.E298D(1)		NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		CATATGAAGAGGCAGCTGCCT	0.413000													11	44					9.70103e-10	1.34193e-09	0.008291	1	0
NECAB1	64168	broad.mit.edu	37	8	91963412	91963412	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:91963412C>T	ENST00000417640.2	+	12	1347	c.1010C>T	c.(1009-1011)aCa>aTa	p.T337I	NECAB1_ENST00000521366.1_Missense_Mutation_p.T86I|NECAB1_ENST00000522820.1_Missense_Mutation_p.T86I	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	337					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	p.T337I(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CCAGAACTCACATCTACAATG	0.343000													6	29					0	0	0.003080	0	0
CELA3A	10136	broad.mit.edu	37	1	22333450	22333450	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:22333450G>A	ENST00000290122.3	+	5	461	c.442G>A	c.(442-444)Ggt>Agt	p.G148S		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A									p.G148S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCTCCCGCTGGTGACATCCT	0.602000													37	69					0	0	0.023175	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316477	39316477	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:39316477T>C	ENST00000390661.3	-	1	506	c.467A>G	c.(466-468)tAc>tGc	p.Y156C		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	156						keratin filament		p.Y156C(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ATGGGGCCTGTAGCACCTGGA	0.617000													12	28					0	0	0.013537	0	0
NEDD4	4734	broad.mit.edu	37	15	56142806	56142806	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:56142806C>A	ENST00000508342.1	-	10	2837	c.2538G>T	c.(2536-2538)tgG>tgT	p.W846C	NEDD4_ENST00000506154.1_Missense_Mutation_p.W830C|NEDD4_ENST00000338963.2_Missense_Mutation_p.W774C|NEDD4_ENST00000435532.3_Missense_Mutation_p.W427C			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	846	Mediates interaction with TNIK (By similarity).|WW 3.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.W774F(1)|p.W427F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GCCGGACTTCCCAGCCTTTAG	0.468000													62	123					6.20203e-27	1.15927e-26	0.014410	1	0
ZC3H15	55854	broad.mit.edu	37	2	187371499	187371499	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:187371499A>G	ENST00000337859.6	+	9	1253	c.1026A>G	c.(1024-1026)gtA>gtG	p.V342V		NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	342			V -> E (in dbSNP:rs11555006).	V -> A (in Ref. 2; AAF28981).		cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	p.V342V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CAAGAGATGTAGATGAAACAG	0.318000													41	71					0	0	0.007835	0	0
UNC13A	23025	broad.mit.edu	37	19	17758111	17758111	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:17758111G>A	ENST00000428389.2	-	18	2270	c.2271C>T	c.(2269-2271)gaC>gaT	p.D757D	UNC13A_ENST00000552293.1_Silent_p.D669D|UNC13A_ENST00000551649.1_Silent_p.D669D|UNC13A_ENST00000252773.7_Silent_p.D669D|UNC13A_ENST00000550896.1_Silent_p.D667D|UNC13A_ENST00000519716.2_Silent_p.D669D			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	669	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.D757D(1)|p.D669D(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGACGTGCCGTCCAGCACGC	0.632000													3	5					0	0	0.004672	0	0
PLCL1	5334	broad.mit.edu	37	2	198950287	198950287	+	Silent	SNP	G	G	T	rs144487956	by1000genomes	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:198950287G>T	ENST00000428675.1	+	2	2444	c.2046G>T	c.(2044-2046)acG>acT	p.T682T	PLCL1_ENST00000437704.2_Silent_p.T584T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	682	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T682T(1)|p.T584T(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACCTTCACACGGGCTGGTTTC	0.443000													13	96					1.36491e-13	2.15697e-13	0.016723	1	0
RORB	6096	broad.mit.edu	37	9	77282816	77282816	+	Splice_Site	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:77282816A>G	ENST00000376896.2	+	8	1722	c.1111_splice	c.e8+1	p.P370_splice	RORB_ENST00000396204.2_Splice_Site_p.P381_splice	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	381	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.P370P(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGATATCTCCAGGTAGGGCAG	0.403000													5	80					0	0	0.001984	0	0
COL15A1	1306	broad.mit.edu	37	9	101788185	101788185	+	Splice_Site	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:101788185G>A	ENST00000375001.3	+	16	2403		c.e16-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ATGTTCCCCAGGGCCCTGAGG	0.577000													6	8					0	0	0.001984	0	0
AGBL1	123624	broad.mit.edu	37	15	86807757	86807757	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:86807757C>A	ENST00000441037.2	+	10	1312	c.1217C>A	c.(1216-1218)tCt>tAt	p.S406Y	AGBL1_ENST00000421325.2_Missense_Mutation_p.S406Y|AGBL1_ENST00000389298.3_Missense_Mutation_p.S137Y	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	406					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.S406N(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGAGATTCTTCTGAAAGTGAA	0.468000													24	61					7.33532e-06	8.76373e-06	0.021523	1	0
MYRIP	25924	broad.mit.edu	37	3	39942313	39942313	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:39942313G>C	ENST00000302541.6	+	2	348	c.6G>C	c.(4-6)ggG>ggC	p.G2G	MYRIP_ENST00000396217.3_5'UTR|MYRIP_ENST00000444716.1_Silent_p.G2G|MYRIP_ENST00000425621.1_Silent_p.G2G	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	2					intracellular protein transport		actin binding|zinc ion binding	p.G2G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TAACCATGGGGAGGAAGCTGG	0.398000													59	45					0	0	0.014410	0	0
GRIA3	2892	broad.mit.edu	37	X	122318470	122318470	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:122318470G>A	ENST00000264357.5	+	1	375	c.83G>A	c.(82-84)gGa>gAa	p.G28E	GRIA3_ENST00000371266.1_Missense_Mutation_p.G28E|GRIA3_ENST00000371256.5_Missense_Mutation_p.G28E|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000542149.1_Missense_Mutation_p.G28E|GRIA3_ENST00000371264.3_Missense_Mutation_p.G28E|GRIA3_ENST00000371251.1_Missense_Mutation_p.G28E	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	28					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.G28E(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CATTCTCACGGAGGATTCCCC	0.587000													19	88					0	0	0.008871	0	0
CFHR4	10877	broad.mit.edu	37	1	196876504	196876504	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:196876504C>T	ENST00000367416.2	+	5	809	c.672C>T	c.(670-672)ttC>ttT	p.F224F	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.F224F(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CCACGTCCTTCCCGCAAAAAG	0.408000													10	48					0	0	0.006214	0	0
ITGB2	3689	broad.mit.edu	37	21	46330268	46330268	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:46330268C>T	ENST00000397850.2	-	4	530	c.78G>A	c.(76-78)acG>acA	p.T26T	ITGB2_ENST00000302347.5_Silent_p.T26T|ITGB2_ENST00000523126.1_5'UTR|ITGB2_ENST00000355153.4_Silent_p.T26T|ITGB2_ENST00000397846.3_Silent_p.T26T|ITGB2_ENST00000397857.1_Silent_p.T26T|ITGB2_ENST00000397854.3_Silent_p.T26T|ITGB2_ENST00000397852.1_Silent_p.T26T			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	26					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.T26T(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCTTGAACTTCGTGCACTCCT	0.662000													4	33					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179594234	179594234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179594234C>A	ENST00000589042.1	-	64	18873	c.18649G>T	c.(18649-18651)Gag>Tag	p.E6217*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E5900*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E4973*|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5900	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4973*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCCAGCTCCACGTCACTA	0.448000													30	69					2.65835e-16	4.44336e-16	0.007291	1	0
ZIC1	7545	broad.mit.edu	37	3	147128064	147128064	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:147128064G>C	ENST00000282928.4	+	1	894	c.165G>C	c.(163-165)gaG>gaC	p.E55D		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	55					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E55D(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GTTCGCACGAGCTGGCTTCGG	0.711000													4	38					0	0	0.021553	0	0
SLC15A3	51296	broad.mit.edu	37	11	60714008	60714008	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:60714008C>G	ENST00000227880.3	-	2	1077	c.844G>C	c.(844-846)Gcc>Ccc	p.A282P		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	282					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	p.A282P(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CCTTACCTGGCCGAGTGTCGT	0.622000													8	24					0	0	0.003080	0	0
ZNF708	7562	broad.mit.edu	37	19	21476272	21476272	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:21476272G>T	ENST00000356929.3	-	4	1693	c.1496C>A	c.(1495-1497)aCt>aAt	p.T499N		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T499N(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TTTCTCTCCAGTATGAATTAT	0.353000													10	17					0.00829132	0.00877954	0.008291	1	0
FAM120B	84498	broad.mit.edu	37	6	170627610	170627610	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:170627610C>A	ENST00000476287.1	+	2	1240	c.1132C>A	c.(1132-1134)Ccc>Acc	p.P378T	FAM120B_ENST00000537664.1_Missense_Mutation_p.P401T|FAM120B_ENST00000540480.1_Missense_Mutation_p.P390T|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	378					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.P378T(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GCAAGAAGTTCCCATGTGTTC	0.527000													69	129					1.26778e-28	2.39981e-28	0.014410	1	0
TRMT11	60487	broad.mit.edu	37	6	126319418	126319418	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:126319418T>C	ENST00000334379.5	+	5	465	c.344T>C	c.(343-345)tTt>tCt	p.F115S	TRMT11_ENST00000368332.3_Missense_Mutation_p.F115S|TRMT11_ENST00000450358.1_Missense_Mutation_p.F115S	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	115					tRNA processing		methyltransferase activity|nucleic acid binding	p.F115S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ATTCACACTTTTAATAAGACA	0.294000													3	19					0	0	0.004672	0	0
PCDH15	65217	broad.mit.edu	37	10	56138550	56138550	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:56138550C>G	ENST00000373965.2	-	4	704	c.310G>C	c.(310-312)Gat>Cat	p.D104H	PCDH15_ENST00000395430.1_Missense_Mutation_p.D104H|PCDH15_ENST00000437009.1_Missense_Mutation_p.D104H|PCDH15_ENST00000373955.1_Missense_Mutation_p.D104H|PCDH15_ENST00000395438.1_Missense_Mutation_p.D104H|PCDH15_ENST00000395433.1_Missense_Mutation_p.D82H|PCDH15_ENST00000320301.6_Missense_Mutation_p.D104H|PCDH15_ENST00000395446.1_Missense_Mutation_p.D104H|PCDH15_ENST00000395442.1_Missense_Mutation_p.D104H|PCDH15_ENST00000395432.2_Missense_Mutation_p.D104H|PCDH15_ENST00000361849.3_Missense_Mutation_p.D104H|PCDH15_ENST00000395445.1_Missense_Mutation_p.D104H|PCDH15_ENST00000373957.3_Missense_Mutation_p.D82H|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D109H|PCDH15_ENST00000395440.1_Missense_Mutation_p.D104H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	104	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D109H(2)|p.D104H(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACATCTCTATCCAGAACTCTT	0.328000										HNSCC(58;0.16)			6	68					0	0	0.003080	0	0
IGSF10	285313	broad.mit.edu	37	3	151162958	151162958	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:151162958G>T	ENST00000282466.3	-	4	4810	c.4811C>A	c.(4810-4812)aCc>aAc	p.T1604N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1604					cell differentiation|multicellular organismal development|ossification	extracellular region		p.T1604N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACAAGAGTGGTGGCCTCGGA	0.428000													31	148					7.11191e-15	1.15541e-14	0.013726	1	0
LOC101929006	101929006	broad.mit.edu	37	6	29231340	29231340	+	RNA	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:29231340C>G	ENST00000441381.1	+	0	79																		p.D173H(1)									AAATAGTGATCCAGGTGGTGG	0.448000													25	28					0	0	0.018920	0	0
MAP3K10	4294	broad.mit.edu	37	19	40704286	40704286	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:40704286G>T	ENST00000253055.3	+	2	975	c.687G>T	c.(685-687)ctG>ctT	p.L229L	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	229	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	p.L229L(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCACAGTCCTGATCCTGGAGG	0.612000													6	25					3.59834e-05	4.19806e-05	0.021553	1	0
ZNF236	7776	broad.mit.edu	37	18	74624286	74624286	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:74624286G>T	ENST00000253159.8	+	17	3084	c.2886G>T	c.(2884-2886)caG>caT	p.Q962H	ZNF236_ENST00000320610.9_Missense_Mutation_p.Q964H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	962					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q962H(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ACGAGGACCAGAGCAGGCGCT	0.542000													4	15					0.00024832	0.000277597	0.009096	1	0
CELSR1	9620	broad.mit.edu	37	22	46795763	46795763	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:46795763C>A	ENST00000262738.3	-	10	5262	c.5263G>T	c.(5263-5265)Ggc>Tgc	p.G1755C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1755	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	p.G1755C(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGGAGGGGCCGTGGGACACC	0.547000													11	33					0.00185496	0.00202165	0.016723	1	0
BIRC6	57448	broad.mit.edu	37	2	32613998	32613998	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:32613998C>T	ENST00000421745.2	+	4	960	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	276					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.R276C(1)|p.R248C(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGGGCCAGGCCGTTCTGTAGA	0.433000													3	13					0	0	0.004672	0	0
BRINP3	339479	broad.mit.edu	37	1	190067568	190067568	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:190067568G>T	ENST00000367462.3	-	8	2112	c.1881C>A	c.(1879-1881)atC>atA	p.I627I	FAM5C_ENST00000534846.1_Silent_p.I525I|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		627						extracellular region		p.I627I(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTCTCAGGTAGATGTGTACTG	0.458000													102	170					1.32035e-51	2.61811e-51	0.014410	1	0
ZNF516	9658	broad.mit.edu	37	18	74154223	74154223	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:74154223A>G	ENST00000443185.2	-	3	1105	c.788T>C	c.(787-789)cTg>cCg	p.L263P	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L263P(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GTGCGCCTTCAGGAACCAGGT	0.652000													5	20					0	0	0.014758	0	0
COL22A1	169044	broad.mit.edu	37	8	139833475	139833475	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:139833475C>A	ENST00000303045.6	-	7	1595	c.1149G>T	c.(1147-1149)gcG>gcT	p.A383A	COL22A1_ENST00000435777.1_Silent_p.A383A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	383	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.A383A(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTGCACCAGCGCACAGTCAA	0.567000										HNSCC(7;0.00092)			9	51					7.48243e-07	9.27964e-07	0.006214	1	0
FOLR4	390243	broad.mit.edu	37	11	94040669	94040669	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:94040669G>T	ENST00000440961.2	+	4	587	c.543G>T	c.(541-543)aaG>aaT	p.K181N		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	188						extracellular region	folic acid binding|receptor activity	p.K182N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TGTGTGAGAAGACTTGGAGCA	0.607000													15	48					1.99824e-07	2.5232e-07	0.004990	1	0
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:123780522G>A	ENST00000420886.2	-	31	4114	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372							ATP binding|DNA binding|hydrolase activity	p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433000													6	342					0	0	0.021553	0	0
BCORL1	63035	broad.mit.edu	37	X	129147051	129147051	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:129147051C>T	ENST00000540052.1	+	3	347	c.303C>T	c.(301-303)taC>taT	p.Y101Y	BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000218147.7_Silent_p.Y101Y|BCORL1_ENST00000303743.5_Silent_p.Y101Y|BCORL1_ENST00000359304.2_Silent_p.Y101Y	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	101					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.Y101Y(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AAATGGACTACGCTGGGAACG	0.607000													15	47					0	0	0.024245	0	0
OR2D3	120775	broad.mit.edu	37	11	6943155	6943155	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:6943155T>G	ENST00000317834.3	+	1	951	c.923T>G	c.(922-924)tTg>tGg	p.L308W		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L308W(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATTTATAGCTTGAGGAACAAA	0.423000													33	68					0	0	0.012213	0	0
MYO16	23026	broad.mit.edu	37	13	109379843	109379843	+	Missense_Mutation	SNP	A	A	T	rs141525847	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:109379843A>T	ENST00000356711.2	+	4	479	c.353A>T	c.(352-354)aAc>aTc	p.N118I	MYO16_ENST00000357550.2_Missense_Mutation_p.N118I|MYO16_ENST00000251041.5_Missense_Mutation_p.N118I	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	118					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.N118I(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGAGGAGTCAACGTCAACCAC	0.408000													5	140					0	0	0.014758	0	0
COL6A3	1293	broad.mit.edu	37	2	238287867	238287867	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:238287867T>C	ENST00000295550.4	-	6	2361	c.1909A>G	c.(1909-1911)Aaa>Gaa	p.K637E	COL6A3_ENST00000409809.1_Missense_Mutation_p.K431E|COL6A3_ENST00000392004.3_Missense_Mutation_p.K431E|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Missense_Mutation_p.K431E|COL6A3_ENST00000347401.3_Missense_Mutation_p.K436E|COL6A3_ENST00000392003.2_Missense_Mutation_p.K230E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	637	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.K431E(1)|p.K637E(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATATCCCTTTTGTTTGAGTGA	0.418000													7	57					0	0	0.003080	0	0
RYR2	6262	broad.mit.edu	37	1	237881823	237881823	+	Splice_Site	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:237881823T>A	ENST00000366574.2	+	73	10871		c.e73+2		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAAGGCAAGGTAAGCCAAATT	0.289000													3	20					0	0	0.009096	0	0
ITGAD	3681	broad.mit.edu	37	16	31422636	31422636	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:31422636A>T	ENST00000389202.2	+	14	1554	c.1505A>T	c.(1504-1506)cAg>cTg	p.Q502L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	502					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.Q502L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGAGGGTGCAGTGGCAGTGT	0.632000													29	167					0	0	0.009535	0	0
FAM24A	118670	broad.mit.edu	37	10	124672365	124672365	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:124672365C>A	ENST00000368894.1	+	3	334	c.213C>A	c.(211-213)acC>acA	p.T71T		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	71						extracellular region		p.T71T(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CCAAAGCCACCACCATGGAGT	0.507000													28	53					1.16021e-09	1.59223e-09	0.007291	1	0
MTOR	2475	broad.mit.edu	37	1	11272478	11272478	+	Missense_Mutation	SNP	T	T	C	rs151082401		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:11272478T>C	ENST00000361445.4	-	23	3528	c.3452A>G	c.(3451-3453)tAt>tGt	p.Y1151C		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1151					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.Y1151C(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCGGGAGGCATAGTCAGTGAA	0.507000													10	44					0	0	0.006214	0	0
FAM126A	84668	broad.mit.edu	37	7	22999980	22999980	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:22999980C>T	ENST00000432176.2	-	10	1118	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	FAM126A_ENST00000409923.1_Missense_Mutation_p.E296K|FAM126A_ENST00000498833.1_5'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	296						cytoplasm|membrane	signal transducer activity	p.E296K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CTTGTACCTTCCTTATTAGAT	0.383000													41	130					0	0	0.007835	0	0
ATP2B3	492	broad.mit.edu	37	X	152818574	152818574	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:152818574C>A	ENST00000370186.1	+	11	2189	c.1863C>A	c.(1861-1863)atC>atA	p.I621I	ATP2B3_ENST00000370181.2_Silent_p.I621I|ATP2B3_ENST00000393842.1_Silent_p.I621I|ATP2B3_ENST00000349466.2_Silent_p.I635I|ATP2B3_ENST00000359149.3_Silent_p.I635I|ATP2B3_ENST00000263519.4_Silent_p.I635I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	635					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.I635I(3)|p.I621I(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGATCATCGAGCCGATGG	0.627000													8	37					5.18039e-06	6.2392e-06	0.003080	1	0
CSMD1	64478	broad.mit.edu	37	8	3443692	3443692	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:3443692G>C	ENST00000602557.1	-	10	1746	c.1191C>G	c.(1189-1191)ctC>ctG	p.L397L	CSMD1_ENST00000400186.3_Silent_p.L397L|CSMD1_ENST00000542608.1_Silent_p.L396L|CSMD1_ENST00000602723.1_Silent_p.L397L|CSMD1_ENST00000537824.1_Silent_p.L396L|CSMD1_ENST00000539096.1_Silent_p.L396L|CSMD1_ENST00000520002.1_Silent_p.L397L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	397	Sushi 2.					integral to membrane		p.L396L(1)|p.L125L(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCAAGCAGCGAGCGTCTCTG	0.478000													6	8					0	0	0.001984	0	0
DLX1	1745	broad.mit.edu	37	2	172952919	172952919	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:172952919C>A	ENST00000361725.4	+	3	1154	c.702C>A	c.(700-702)atC>atA	p.I234I	DLX1_ENST00000341900.6_3'UTR|DLX1_ENST00000550686.1_3'UTR	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	234						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I234I(1)		central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCTCCTATATCCCCAGCTACA	0.627000													29	76					4.15321e-07	5.20024e-07	0.009535	1	0
SHC4	399694	broad.mit.edu	37	15	49127037	49127037	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:49127037C>A	ENST00000332408.4	-	11	2094	c.1666G>T	c.(1666-1668)Ggc>Tgc	p.G556C	SHC4_ENST00000537958.1_Missense_Mutation_p.G270C|SHC4_ENST00000396535.3_Missense_Mutation_p.G313C	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	556	SH2.				intracellular signal transduction	cell junction|postsynaptic membrane		p.G556C(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ACATATTGGCCAGGGGATGTT	0.502000													6	74					0.0215528	0.02239	0.021553	1	0
ZDHHC8	29801	broad.mit.edu	37	22	20128827	20128827	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:20128827A>C	ENST00000334554.7	+	8	1123	c.982A>C	c.(982-984)Agt>Cgt	p.S328R	ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.S236R|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.S328R	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	328						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.S328R(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CACGTTCAGCAGTGACCTGCA	0.647000													4	90					0	0	0.014758	0	0
NEDD4	4734	broad.mit.edu	37	15	56142807	56142807	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:56142807C>A	ENST00000508342.1	-	10	2836	c.2537G>T	c.(2536-2538)tGg>tTg	p.W846L	NEDD4_ENST00000506154.1_Missense_Mutation_p.W830L|NEDD4_ENST00000338963.2_Missense_Mutation_p.W774L|NEDD4_ENST00000435532.3_Missense_Mutation_p.W427L			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	846	Mediates interaction with TNIK (By similarity).|WW 3.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.W774F(1)|p.W427F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CCGGACTTCCCAGCCTTTAGG	0.468000													59	123					1.19403e-26	2.22787e-26	0.014410	1	0
TBC1D9B	23061	broad.mit.edu	37	5	179290820	179290820	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:179290820C>G	ENST00000356834.3	-	22	3418	c.3381G>C	c.(3379-3381)gtG>gtC	p.V1127V	TBC1D9B_ENST00000355235.3_Silent_p.V1110V|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000444477.2_Silent_p.V268V|TBC1D9B_ENST00000519746.1_Silent_p.V286V	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1127						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	p.V1127V(1)|p.V1110V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCCTCCACCACCACCTGGC	0.637000													37	50					0	0	0.009718	0	0
GLUD2	2747	broad.mit.edu	37	X	120181573	120181573	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:120181573C>A	ENST00000328078.1	+	1	112	c.35C>A	c.(34-36)tCc>tAc	p.S12Y		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	12					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	p.S12Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTGCTGCCGTCCCGGGCCGGG	0.766000													9	21					5.50884e-06	6.60427e-06	0.013537	1	0
WDR34	89891	broad.mit.edu	37	9	131398630	131398630	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:131398630C>T	ENST00000372715.2	-	4	693	c.633G>A	c.(631-633)tcG>tcA	p.S211S		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	211						cytoplasm		p.S211S(1)		central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CCACCACGGCCGACGGCTGCT	0.677000													4	9					0	0	0.009096	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24979672	24979672	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:24979672C>A	ENST00000289968.6	-	6	530	c.461_splice	c.e6+1	p.R154_splice	ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Splice_Site_p.R154_splice|ARHGAP17_ENST00000441763.2_Splice_Site_p.R154_splice	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	154	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	p.R154M(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AAGCTGTTACCTGGCTCTGAC	0.493000													21	52					0.00278032	0.00299574	0.016522	1	0
CHSY3	337876	broad.mit.edu	37	5	129520233	129520233	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:129520233G>C	ENST00000305031.4	+	3	1756	c.1398G>C	c.(1396-1398)tgG>tgC	p.W466C		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	466						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.W466C(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGATAGAATGGGAGTTCCTGA	0.502000													14	19					0	0	0.016723	0	0
VWA3B	200403	broad.mit.edu	37	2	98736075	98736075	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:98736075C>T	ENST00000477737.1	+	4	595	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	VWA3B_ENST00000435344.1_Missense_Mutation_p.R131W|VWA3B_ENST00000451075.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	131								p.R131W(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAGCAAGAGCCGGCAGATTTT	0.498000													17	163					0	0	0.004990	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996472	140996472	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:140996472C>A	ENST00000285879.4	+	4	3568	c.3282C>A	c.(3280-3282)acC>acA	p.T1094T	MAGEC1_ENST00000406005.2_Silent_p.T161T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1094	MAGE.						protein binding	p.T1094T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TAAAGAATACCGTCCCTATTA	0.453000										HNSCC(15;0.026)			28	209					8.16721e-17	1.37838e-16	0.010818	1	0
MTMR7	9108	broad.mit.edu	37	8	17157479	17157479	+	Silent	SNP	G	G	C	rs146319076	by1000genomes	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:17157479G>C	ENST00000180173.5	-	14	1909	c.1875C>G	c.(1873-1875)tcC>tcG	p.S625S	MTMR7_ENST00000398099.3_Silent_p.S216S|VPS37A_ENST00000521162.1_3'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	625							protein tyrosine phosphatase activity	p.S625S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTCCACCCCGGACTCTTGGT	0.512000													9	29					0	0	0.008291	0	0
MYL4	4635	broad.mit.edu	37	17	45299788	45299788	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:45299788G>T	ENST00000354968.1	+	6	658	c.530G>T	c.(529-531)gGg>gTg	p.G177V	MYL4_ENST00000393450.1_Missense_Mutation_p.G177V|MYL4_ENST00000572316.1_Missense_Mutation_p.G177V	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	177	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	p.G177V(1)|p.G84V(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CTGTTAGCTGGGCAAGAGGAT	0.552000													7	54					8.12818e-05	9.21489e-05	0.001984	1	0
GDF6	392255	broad.mit.edu	37	8	97156857	97156857	+	Missense_Mutation	SNP	G	G	T	rs138730867	by1000genomes	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:97156857G>T	ENST00000287020.5	-	2	1401	c.1302C>A	c.(1300-1302)gaC>gaA	p.D434E		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	434					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.D434E(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					TATTGCCCGCGTCGATGTATA	0.602000													9	23					1.58986e-06	1.95315e-06	0.008291	1	0
IL20RB	53833	broad.mit.edu	37	3	136701172	136701172	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:136701172A>G	ENST00000329582.4	+	3	635	c.386A>G	c.(385-387)cAt>cGt	p.H129R	IL20RB_ENST00000309741.5_Missense_Mutation_p.H82R|IL20RB_ENST00000484501.1_Intron	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	129	Fibronectin type-III 1.					integral to membrane	receptor activity	p.H129R(2)		kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						ATCCTGAAGCATCCCTTTAAT	0.507000													14	41					0	0	0.020292	0	0
MSLNL	401827	broad.mit.edu	37	16	823010	823010	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:823010C>A	ENST00000293892.3	-	11	2174	c.2175G>T	c.(2173-2175)cgG>cgT	p.R725R	MSLNL_ENST00000442466.1_Silent_p.R374R			Q96KJ4	MSLNL_HUMAN	mesothelin-like	374					cell adhesion	integral to membrane		p.R725R(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGGTGATGAGCCGCAGCTGAT	0.672000													42	58					2.01807e-28	3.79936e-28	0.014410	1	0
CALCR	799	broad.mit.edu	37	7	93065291	93065291	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:93065291G>T	ENST00000359558.2	-	14	1523	c.1224C>A	c.(1222-1224)taC>taA	p.Y408*	CALCR_ENST00000426151.1_Nonsense_Mutation_p.Y374*|CALCR_ENST00000360249.4_Nonsense_Mutation_p.Y390*|CALCR_ENST00000394441.1_Nonsense_Mutation_p.Y374*|CALCR_ENST00000421592.1_Nonsense_Mutation_p.Y390*	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	390					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.Y374*(1)|p.Y408*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	AGTGCATCACGTAATCATATA	0.443000													4	27					0.014758	0.0154389	0.014758	1	0
STON1	11037	broad.mit.edu	37	2	48809666	48809666	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:48809666G>T	ENST00000309835.3	+	1	1904	c.1894G>T	c.(1894-1896)Gta>Tta	p.V632L	STON1_ENST00000406226.1_Missense_Mutation_p.V632L|STON1_ENST00000404752.1_Missense_Mutation_p.V632L|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V632L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V632L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.V632L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.V632L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V632L					stonin 1									p.V632L(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAGGCAGTGGTATGGAAGAT	0.428000													9	39					0.000673444	0.000740931	0.008291	1	0
SMARCA4	6597	broad.mit.edu	37	19	11138491	11138491	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:11138491G>T	ENST00000358026.2	+	24	3531	c.3247G>T	c.(3247-3249)Gag>Tag	p.E1083*	SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E1083*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E1083*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E1083*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E1083*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E1083*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.E1083*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E1083*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E1083*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1083					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)|p.E1083*(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGGTAAATTTGAGCTTCTTGA	0.517000			"""F, N, Mis"""		NSCLC								37	35					1.69901e-12	2.59074e-12	0.023175	1	0
SETD2	29072	broad.mit.edu	37	3	47158147	47158147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:47158147C>A	ENST00000409792.3	-	4	4594	c.4552G>T	c.(4552-4554)Gaa>Taa	p.E1518*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1518	AWS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.E1518*(1)|p.E1015*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGACAATCTTCCCCACATGCT	0.338000			"""N, F, S, Mis"""		clear cell renal carcinoma								48	65					1.56989e-16	2.63671e-16	0.014410	1	0
EDA	1896	broad.mit.edu	37	X	68836384	68836384	+	Missense_Mutation	SNP	C	C	T	rs41539891		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:68836384C>T	ENST00000374552.4	+	1	474	c.232C>T	c.(232-234)Ctt>Ttt	p.L78F	EDA_ENST00000527388.1_Missense_Mutation_p.L78F|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Missense_Mutation_p.L78F|EDA_ENST00000374553.2_Missense_Mutation_p.L78F|EDA_ENST00000338901.3_Missense_Mutation_p.L78F|EDA_ENST00000525810.1_Missense_Mutation_p.L78F	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	78					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	p.L78F(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CGAGTCCCGCCTTGGCGGCTC	0.672000													7	31					0	0	0.001984	0	0
OR13F1	138805	broad.mit.edu	37	9	107267268	107267268	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:107267268C>T	ENST00000334726.2	+	1	814	c.725C>T	c.(724-726)aCa>aTa	p.T242I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T242M(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCAACGTGCACAGCCCACCTG	0.463000													39	58					0	0	0.008740	0	0
TRPS1	7227	broad.mit.edu	37	8	116599310	116599310	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:116599310C>A	ENST00000395715.3	-	5	3195	c.2618G>T	c.(2617-2619)gGa>gTa	p.G873V	TRPS1_ENST00000519674.1_Missense_Mutation_p.G860V|TRPS1_ENST00000519076.1_Missense_Mutation_p.G614V|TRPS1_ENST00000220888.5_Missense_Mutation_p.G860V|TRPS1_ENST00000520276.1_Missense_Mutation_p.G864V	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	860					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G860V(1)|p.G873V(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGACTTCTCTCCGCCAGCTGG	0.567000									Langer-Giedion syndrome				10	64					2.17888e-05	2.57078e-05	0.006214	1	0
ITGAD	3681	broad.mit.edu	37	16	31419214	31419214	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:31419214A>T	ENST00000389202.2	+	9	1035	c.986A>T	c.(985-987)cAg>cTg	p.Q329L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	329	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.Q329L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AAGCAGCTGCAGGAGAAGATC	0.562000													25	42					0	0	0.024334	0	0
SNX5	27131	broad.mit.edu	37	20	17932182	17932182	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:17932182C>A	ENST00000377768.3	-	7	883	c.571G>T	c.(571-573)Gtg>Ttg	p.V191L	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.V191L	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	191					cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	p.V191L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						GCACTTTTCACCACACTTTTG	0.358000													33	75					4.14481e-20	7.31478e-20	0.025465	1	0
PKHD1	5314	broad.mit.edu	37	6	51890625	51890625	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:51890625A>T	ENST00000371117.3	-	32	4258	c.3983T>A	c.(3982-3984)gTc>gAc	p.V1328D	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1328D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1328	IPT/TIG 8; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.V1328D(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGAAGGATGACTGAGTTGGA	0.527000													18	28					0	0	0.004990	0	0
SFTPB	6439	broad.mit.edu	37	2	85894864	85894864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:85894864G>A	ENST00000393822.3	-	3	268	c.169C>T	c.(169-171)Caa>Taa	p.Q57*	SFTPB_ENST00000519937.2_Nonsense_Mutation_p.Q45*|SFTPB_ENST00000409383.1_Nonsense_Mutation_p.Q57*|SFTPB_ENST00000342375.3_Nonsense_Mutation_p.Q45*			P07988	PSPB_HUMAN	surfactant protein B	45	Saposin A-type.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		p.Q45*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TGCAATGCTTGCTCCAGGCTT	0.592000													44	65					0	0	0.013114	0	0
ACTL9	284382	broad.mit.edu	37	19	8808271	8808271	+	Missense_Mutation	SNP	C	C	A	rs142929347		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:8808271C>A	ENST00000324436.3	-	1	901	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	261						cytoplasm|cytoskeleton		p.V261L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TCGGAGGCCACGTAGCAATAG	0.647000													16	28					4.7546e-09	6.39053e-09	0.028581	1	0
VPS13D	55187	broad.mit.edu	37	1	12328835	12328835	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:12328835G>C	ENST00000358136.3	+	16	2004	c.1874G>C	c.(1873-1875)cGg>cCg	p.R625P	VPS13D_ENST00000356315.4_Missense_Mutation_p.R625P	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	625					protein localization			p.R625P(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTGAGAGGCGGCTCAATGTC	0.463000													71	151					0	0	0.014410	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33802074	33802074	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:33802074T>C	ENST00000260908.7	-	4	1752	c.1635A>G	c.(1633-1635)acA>acG	p.T545T	SLFN12L_ENST00000449046.1_Silent_p.T576T|SLFN12L_ENST00000361112.4_Silent_p.T574T	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	577						integral to membrane	ATP binding	p.T576T(2)|p.T574T(1)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTGTTTGAGCTGTTGTCCAAT	0.363000													10	22					0	0	0.006214	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44975430	44975430	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:44975430C>G	ENST00000296127.3	-	4	751	c.478G>C	c.(478-480)Gtc>Ctc	p.V160L	ZDHHC3_ENST00000424952.2_Missense_Mutation_p.V160L|ZDHHC3_ENST00000342790.4_Missense_Mutation_p.V194L	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	160						Golgi membrane|integral to membrane	zinc ion binding	p.V160L(1)|p.V26L(1)		endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CAGTTGTTGACCCAGGGACAG	0.532000													8	323					0	0	0.003080	0	0
SMARCA2	6595	broad.mit.edu	37	9	2054677	2054677	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:2054677C>T	ENST00000382203.1	+	6	1336	c.1127C>T	c.(1126-1128)gCa>gTa	p.A376V	SMARCA2_ENST00000382194.1_Missense_Mutation_p.A376V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.A376V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.A376V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	376					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.A372V(1)|p.A376V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGAACCAAAGCAACCGTGGAA	0.408000													25	48					0	0	0.027356	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576096	20576096	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:20576096G>A	ENST00000329697.6	-	2	240	c.72C>T	c.(70-72)taC>taT	p.Y24Y	ACSM2B_ENST00000565232.1_Silent_p.Y24Y|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000567001.1_Silent_p.Y24Y|ACSM2B_ENST00000414188.2_Silent_p.Y24Y	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	24					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.Y24Y(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TACTATTAATGTAGAGAGTGC	0.512000													12	29					0	0	0.020292	0	0
ZNF702P	79986	broad.mit.edu	37	19	53484207	53484207	+	RNA	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:53484207G>T	ENST00000600068.1	-	0	151				ZNF702P_ENST00000270443.4_RNA																							CATGTAACAGGAGTTTTTGGA	0.398000													9	37					0.00621372	0.00659299	0.006214	1	0
SH3BP2	6452	broad.mit.edu	37	4	2826407	2826407	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:2826407A>C	ENST00000356331.5	+	4	568	c.307A>C	c.(307-309)Aag>Cag	p.K103Q	SH3BP2_ENST00000452765.2_Missense_Mutation_p.K103Q|SH3BP2_ENST00000435136.2_Missense_Mutation_p.K103Q|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000503393.2_Missense_Mutation_p.K160Q|SH3BP2_ENST00000511747.1_Missense_Mutation_p.K103Q|SH3BP2_ENST00000442312.2_Missense_Mutation_p.K131Q	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	103	PH.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	p.K103Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CCATATCAGCAAGAAGCACCG	0.637000									Cherubism				34	55					0	0	0.025465	0	0
CALN1	83698	broad.mit.edu	37	7	71275385	71275385	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:71275385G>T	ENST00000395275.2	-	6	982	c.594C>A	c.(592-594)atC>atA	p.I198I	CALN1_ENST00000431984.1_Silent_p.I156I|CALN1_ENST00000412588.1_Silent_p.I198I|CALN1_ENST00000405452.2_Silent_p.I156I|CALN1_ENST00000395276.2_Silent_p.I156I|CALN1_ENST00000329008.5_Silent_p.I156I	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	156						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.I156I(1)|p.I198I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATTGATAATGATGTTCTCAA	0.507000													34	64					9.78485e-24	1.8063e-23	0.013726	1	0
KIF2B	84643	broad.mit.edu	37	17	51900651	51900651	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:51900651C>A	ENST00000268919.4	+	1	413	c.257C>A	c.(256-258)gCt>gAt	p.A86D		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	86					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.A86D(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGGACTCTGCTGAACACCCC	0.572000													19	147					2.89027e-11	4.21026e-11	0.014323	1	0
CASP3	836	broad.mit.edu	37	4	185552920	185552920	+	Splice_Site	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:185552920T>A	ENST00000308394.4	-	6	744	c.483_splice	c.e6+1	p.Q161_splice	CASP3_ENST00000523916.1_Splice_Site_p.Q161_splice|CASP3_ENST00000393588.4_Splice_Site_p.Q161_splice|CASP3_ENST00000517513.1_Splice_Site_p.Q161_splice|CASP3_ENST00000393585.2_Splice_Site_p.Q161_splice	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	161					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	p.Q161L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	AGACATTACCTGAATAATGAA	0.338000													5	45					0	0	0.014758	0	0
IPO4	79711	broad.mit.edu	37	14	24655132	24655132	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:24655132C>T	ENST00000354464.6	-	12	1280	c.1104G>A	c.(1102-1104)caG>caA	p.Q368Q	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	368					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	p.Q368Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGCTTTGCGCTGGTATGGGC	0.602000													5	42					0	0	0.003080	0	0
CREB3L2	64764	broad.mit.edu	37	7	137612987	137612987	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:137612987G>A	ENST00000330387.6	-	2	579	c.228C>T	c.(226-228)ctC>ctT	p.L76L	CREB3L2_ENST00000458726.1_Silent_p.L13L|CREB3L2_ENST00000452463.1_Silent_p.L76L|CREB3L2_ENST00000456390.1_Silent_p.L76L	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	76					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L76L(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CAGCCTGGATGAGAGGCGCCG	0.572000			T	FUS	fibromyxoid sarcoma								5	12					0	0	0.014758	0	0
UBR5	51366	broad.mit.edu	37	8	103359295	103359295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:103359295C>A	ENST00000520539.1	-	6	1018	c.412G>T	c.(412-414)Gga>Tga	p.G138*	UBR5_ENST00000220959.4_Nonsense_Mutation_p.G138*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.G138*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	138					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.G138*(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCACCACTTCCACCCACTCCA	0.453000													60	87					4.49795e-14	7.20639e-14	0.014410	1	0
GAREM	64762	broad.mit.edu	37	18	29867399	29867399	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:29867399C>A	ENST00000399218.4	-	4	1216	c.1161G>T	c.(1159-1161)tcG>tcT	p.S387S	GAREM_ENST00000269209.6_Silent_p.S387S|RP11-344B2.2_ENST00000579580.1_RNA	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1									p.S387S(1)									ACACACAGACCGAGAGTCGGT	0.587000													12	44					4.3838e-07	5.48238e-07	0.016723	1	0
NTNG1	22854	broad.mit.edu	37	1	107973450	107973450	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:107973450A>T	ENST00000370068.1	+	6	2012	c.1166A>T	c.(1165-1167)cAc>cTc	p.H389L	NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.H389L|NTNG1_ENST00000542803.1_Missense_Mutation_p.H389L|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370072.3_Missense_Mutation_p.H389L|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370065.1_Missense_Mutation_p.H389L|NTNG1_ENST00000370070.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	389	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding	p.H389P(2)|p.H389L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGCTGTAAACACAACACTAGA	0.453000													3	27					0	0	0.009096	0	0
PRDM5	11107	broad.mit.edu	37	4	121774658	121774658	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:121774658T>A	ENST00000264808.3	-	3	455	c.215A>T	c.(214-216)gAt>gTt	p.D72V	PRDM5_ENST00000515109.1_Missense_Mutation_p.D72V|PRDM5_ENST00000394435.2_Missense_Mutation_p.D72V|PRDM5_ENST00000428209.2_Missense_Mutation_p.D72V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	72	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.D72V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTGGTAGCATCCAAAATGTA	0.448000													16	279					0	0	0.028581	0	0
TRIML1	339976	broad.mit.edu	37	4	189068508	189068508	+	Silent	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:189068508A>C	ENST00000332517.3	+	6	1529	c.1389A>C	c.(1387-1389)tcA>tcC	p.S463S	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	463	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.S463S(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCATCTGCTCACTGAACAGCC	0.557000													21	39					0	0	0.010504	0	0
SF1	7536	broad.mit.edu	37	11	64537758	64537758	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:64537758T>C	ENST00000377390.3	-	4	696	c.359A>G	c.(358-360)aAt>aGt	p.N120S	SF1_ENST00000377394.3_Missense_Mutation_p.N120S|SF1_ENST00000377387.1_Missense_Mutation_p.N245S|SF1_ENST00000334944.5_Missense_Mutation_p.N120S|SF1_ENST00000433274.2_Missense_Mutation_p.N94S|SF1_ENST00000227503.9_Missense_Mutation_p.N120S|SF1_ENST00000422298.2_Missense_Mutation_p.N5S	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	120					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	p.N120S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GAAATCCGGATTGAGTGCAAC	0.547000													78	53					0	0	0.014410	0	0
RREB1	6239	broad.mit.edu	37	6	7230553	7230553	+	Missense_Mutation	SNP	G	G	C	rs142616407	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:7230553G>C	ENST00000379938.2	+	10	2758	c.2221G>C	c.(2221-2223)Gcg>Ccg	p.A741P	RREB1_ENST00000334984.6_Missense_Mutation_p.A741P|RREB1_ENST00000379933.3_Missense_Mutation_p.A741P|RREB1_ENST00000349384.6_Missense_Mutation_p.A741P	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	741					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.A741P(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAGTAGCAGCGCGGCCGAGCT	0.627000													13	30					0	0	0.028581	0	0
APOB	338	broad.mit.edu	37	2	21235326	21235326	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:21235326C>A	ENST00000233242.1	-	26	4541	c.4414G>T	c.(4414-4416)Gac>Tac	p.D1472Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1472					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.D1472Y(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTTTGGAGTCCAAATGAACT	0.408000													44	50					2.62258e-09	3.56165e-09	0.010771	1	0
ZNF155	7711	broad.mit.edu	37	19	44501580	44501580	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:44501580G>C	ENST00000270014.2	+	5	1699	c.1571G>C	c.(1570-1572)cGc>cCc	p.R524P	ZNF155_ENST00000407951.2_Missense_Mutation_p.R535P|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.R524P	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	524						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R524P(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TACAAGAGGCGCTTGAATCTG	0.388000													34	36					0	0	0.021022	0	0
ZNF217	7764	broad.mit.edu	37	20	52193350	52193350	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:52193350C>A	ENST00000371471.2	-	4	2378	c.1953G>T	c.(1951-1953)ccG>ccT	p.P651P	ZNF217_ENST00000302342.3_Silent_p.P651P			O75362	ZN217_HUMAN	zinc finger protein 217	651					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P651P(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TACTGCCATCCGGAGGAGGAG	0.493000													128	133					2.87069e-51	5.68145e-51	0.014410	1	0
FRY	10129	broad.mit.edu	37	13	32783010	32783010	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:32783010A>T	ENST00000380250.3	+	32	4535	c.4039A>T	c.(4039-4041)Aca>Tca	p.T1347S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.T1347S(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCGATTCCCCACAACACACCC	0.527000													10	73					0	0	0.008291	0	0
LOC645166	645166	broad.mit.edu	37	1	148932887	148932887	+	RNA	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:148932887G>T	ENST00000539543.1	+	0	143					NR_027355.1																						GTGAGGTACAGGCTCAGTCTG	0.637000													4	122					1.024e-07	1.31208e-07	0.014758	1	0
GPC4	2239	broad.mit.edu	37	X	132548911	132548911	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:132548911T>C	ENST00000370828.3	-	1	607	c.83A>G	c.(82-84)aAa>aGa	p.K28R		NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	28					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.K28R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CGAGCAACTTTTCGACTTGAG	0.642000													13	82					0	0	0.016723	0	0
TTLL12	23170	broad.mit.edu	37	22	43575638	43575638	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:43575638G>C	ENST00000216129.6	-	5	890	c.827C>G	c.(826-828)gCc>gGc	p.A276G		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	276					protein modification process		tubulin-tyrosine ligase activity	p.A276G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GTAGTGCTCGGCGGGCGGCTC	0.622000													3	66					0	0	0.009096	0	0
MTCP1	4515	broad.mit.edu	37	X	154293943	154293943	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:154293943C>A	ENST00000369476.3	-	3	806	c.227G>T	c.(226-228)cGc>cTc	p.R76L	MTCP1_ENST00000482244.1_5'UTR|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Missense_Mutation_p.R76L	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	76					cell proliferation			p.R76L(2)		large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCCATGTAGCGCTCCTCCGG	0.478000			T	TRA@	T cell prolymphocytic leukemia								18	161					8.10497e-08	1.04235e-07	0.010504	1	0
SEMA6A	57556	broad.mit.edu	37	5	115838024	115838024	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:115838024C>A	ENST00000343348.6	-	3	888		c.e3-1		SEMA6A_ENST00000503962.1_Splice_Site|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Splice_Site|SEMA6A_ENST00000510263.1_Splice_Site	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A						apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTTTTGTATCTGTGAAAAGA	0.498000													35	45					6.84511e-11	9.82043e-11	0.015359	1	0
ZC3H13	23091	broad.mit.edu	37	13	46559724	46559724	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:46559724C>A	ENST00000242848.4	-	10	1776	c.1428G>T	c.(1426-1428)atG>atT	p.M476I	ZC3H13_ENST00000282007.3_Missense_Mutation_p.M476I			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	476	Arg/Ser-rich.						nucleic acid binding|zinc ion binding	p.M476I(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTGAGTCCCGCATGTCTCTGG	0.527000													9	273					3.07112e-06	3.72462e-06	0.010729	1	0
TTN	7273	broad.mit.edu	37	2	179432942	179432942	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179432942G>T	ENST00000589042.1	-	326	78141	c.77917C>A	c.(77917-77919)Caa>Aaa	p.Q25973K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q24332K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q23405K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q17033K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q17100K|TTN_ENST00000460472.2_Missense_Mutation_p.Q16908K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24332	Fibronectin type-III 89.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q17033K(1)|p.Q23403K(1)|p.Q16908K(1)|p.Q17100K(1)|p.Q23405K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAAGCTTTGTCCATATCTG	0.413000													45	126					4.0181e-32	7.77529e-32	0.014410	1	0
OR13C8	138802	broad.mit.edu	37	9	107331656	107331656	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:107331656G>T	ENST00000335040.1	+	1	208	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D70Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTCCTTCCTCGACGTTTGCTA	0.428000													48	140					4.18559e-23	7.67235e-23	0.014410	1	0
DLGAP4	22839	broad.mit.edu	37	20	35128633	35128633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:35128633C>T	ENST00000373913.3	+	10	2602	c.2122C>T	c.(2122-2124)Cga>Tga	p.R708*	DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Nonsense_Mutation_p.R172*|DLGAP4_ENST00000339266.5_Nonsense_Mutation_p.R711*|DLGAP4_ENST00000401952.2_Nonsense_Mutation_p.R708*|DLGAP4_ENST00000373907.2_Nonsense_Mutation_p.R711*			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	711					cell-cell signaling	membrane	protein binding	p.R708*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TATGTCCTCCCGACGGGACAC	0.597000													14	21					0	0	0.028581	0	0
AAK1	22848	broad.mit.edu	37	2	69736519	69736519	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:69736519C>A	ENST00000409085.4	-	14	2226	c.1850G>T	c.(1849-1851)gGa>gTa	p.G617V	AAK1_ENST00000409068.1_Missense_Mutation_p.G617V|AAK1_ENST00000406297.3_Missense_Mutation_p.G617V	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	617						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.G617V(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						AGTGAGAGATCCAACTTTCTG	0.557000													14	28					7.93312e-07	9.80361e-07	0.020292	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110408305	110408305	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:110408305G>T	ENST00000378402.5	+	11	965	c.861G>T	c.(859-861)acG>acT	p.T287T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	287	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T289T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGGCACCACGCTGACAATAA	0.393000										HNSCC(38;0.096)			4	17					5.9392e-07	7.40094e-07	0.021553	1	0
PHLPP1	23239	broad.mit.edu	37	18	60563197	60563197	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:60563197G>C	ENST00000400316.4	+	6	2642	c.861G>C	c.(859-861)agG>agC	p.R287S	PHLPP1_ENST00000262719.5_Missense_Mutation_p.R799S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	799					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	p.R799S(2)|p.R286S(1)		endometrium(2)|kidney(2)|lung(13)	17						AGACCCTTAGGCTACAGGCTT	0.383000													8	32					0	0	0.003080	0	0
RHEB	6009	broad.mit.edu	37	7	151174501	151174501	+	Splice_Site	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:151174501C>G	ENST00000262187.5	-	4	605	c.192_splice	c.e4-1	p.D65_splice	RHEB_ENST00000472642.1_5'UTR|RHEB_ENST00000496004.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	65					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding	p.?(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		GAATATTCATCCTGTGGGGAA	0.328000													29	89					0	0	0.009535	0	0
MDGA2	161357	broad.mit.edu	37	14	47566251	47566251	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:47566251A>T	ENST00000426342.1	-	6	853	c.107T>A	c.(106-108)gTt>gAt	p.V36D	MDGA2_ENST00000357362.3_Missense_Mutation_p.V36D|MDGA2_ENST00000439988.2_Missense_Mutation_p.V265D|MDGA2_ENST00000399232.2_Missense_Mutation_p.V334D	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	265	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.V36D(2)|p.V334D(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCCTGTTGTAACACATACTAA	0.438000													9	91					0	0	0.008291	0	0
RGS3	5998	broad.mit.edu	37	9	116259626	116259626	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:116259626G>T	ENST00000374140.2	+	10	992	c.783G>T	c.(781-783)gaG>gaT	p.E261D	RGS3_ENST00000350696.5_Missense_Mutation_p.E261D|RGS3_ENST00000317613.6_Missense_Mutation_p.E149D	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	261					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.E149D(1)|p.E261D(1)|p.E157D(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCTAGGGGAGCACCTGGGCC	0.622000													5	39					0.014758	0.0154389	0.014758	1	0
NLRP14	338323	broad.mit.edu	37	11	7065106	7065106	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:7065106G>T	ENST00000299481.4	+	4	2195	c.1849G>T	c.(1849-1851)Gta>Tta	p.V617L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	617					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.V617L(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACATTTGCTTGTATCTTCTTT	0.403000													37	88					3.33393e-15	5.45886e-15	0.021022	1	0
BRD1	23774	broad.mit.edu	37	22	50197939	50197939	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:50197939G>A	ENST00000216267.8	-	2	1923	c.1437C>T	c.(1435-1437)taC>taT	p.Y479Y	BRD1_ENST00000404760.1_Silent_p.Y479Y|BRD1_ENST00000542442.1_Silent_p.Y172Y|BRD1_ENST00000342989.5_Silent_p.Y74Y|BRD1_ENST00000404034.1_Silent_p.Y479Y|BRD1_ENST00000457780.2_Silent_p.Y479Y	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	479					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.Y479Y(1)|p.Y74Y(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGAGCAGCCAGTAGCTGTGGG	0.567000													11	32					0	0	0.010729	0	0
GPR158	57512	broad.mit.edu	37	10	25886831	25886831	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:25886831C>A	ENST00000376351.3	+	11	2635	c.2276C>A	c.(2275-2277)aCg>aAg	p.T759K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	759						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T759K(1)|p.T759M(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGACGCATTACGGAGATCCCA	0.527000													33	58					2.81731e-10	3.96553e-10	0.010818	1	0
MARK2	2011	broad.mit.edu	37	11	63666130	63666130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:63666130G>T	ENST00000402010.2	+	5	967	c.388G>T	c.(388-390)Gag>Tag	p.E130*	MARK2_ENST00000513765.2_Nonsense_Mutation_p.E97*|MARK2_ENST00000425897.2_Nonsense_Mutation_p.E97*|MARK2_ENST00000408948.3_Nonsense_Mutation_p.E97*|MARK2_ENST00000377809.4_Nonsense_Mutation_p.E130*|MARK2_ENST00000413835.2_Nonsense_Mutation_p.E130*|MARK2_ENST00000350490.7_Nonsense_Mutation_p.E130*|MARK2_ENST00000377810.3_Nonsense_Mutation_p.E97*|MARK2_ENST00000361128.5_Nonsense_Mutation_p.E130*|MARK2_ENST00000502399.3_Nonsense_Mutation_p.E130*|MARK2_ENST00000315032.8_Nonsense_Mutation_p.E130*|MARK2_ENST00000508192.1_Nonsense_Mutation_p.E130*|MARK2_ENST00000509502.2_Nonsense_Mutation_p.E97*	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	130	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.E97*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCTTGTCATGGAGTACGCTAG	0.498000													39	41					1.00001e-27	1.87254e-27	0.009718	1	0
RGS3	5998	broad.mit.edu	37	9	116279846	116279846	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:116279846G>A	ENST00000374140.2	+	17	1909	c.1700G>A	c.(1699-1701)cGg>cAg	p.R567Q	RGS3_ENST00000350696.5_Missense_Mutation_p.R567Q|RGS3_ENST00000374136.1_Missense_Mutation_p.R193Q|RGS3_ENST00000394646.3_Missense_Mutation_p.R286Q|RGS3_ENST00000343817.5_Missense_Mutation_p.R286Q|RGS3_ENST00000317613.6_Missense_Mutation_p.R455Q	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	567					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.R463Q(1)|p.R567Q(1)|p.R455Q(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AATCCTGCCCGGACCCTCCTG	0.557000													3	47					0	0	0.009096	0	0
EHD3	30845	broad.mit.edu	37	2	31484546	31484546	+	Silent	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:31484546A>T	ENST00000322054.5	+	5	1332	c.1047A>T	c.(1045-1047)tcA>tcT	p.S349S	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	349					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	p.S349S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					ACCAGATCTCACCTGGGGACT	0.582000													21	85					0	0	0.016522	0	0
CHD5	26038	broad.mit.edu	37	1	6184629	6184629	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:6184629G>C	ENST00000262450.3	-	30	4586	c.4487C>G	c.(4486-4488)tCc>tGc	p.S1496C	CHD5_ENST00000378021.1_Missense_Mutation_p.S353C	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1496					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.S1496C(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTGCTGCCTGGAGAGGCCCTC	0.642000													3	20					0	0	0.004672	0	0
SHISA2	387914	broad.mit.edu	37	13	26621089	26621089	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:26621089C>A	ENST00000319420.3	-	2	505	c.450G>T	c.(448-450)caG>caT	p.Q150H		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	150					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		p.Q150H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						CTCGGCTCTGCTGGGGATCCT	0.622000													10	25					1.58986e-06	1.95315e-06	0.008291	1	0
CSMD1	64478	broad.mit.edu	37	8	3565937	3565937	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:3565937G>T	ENST00000602557.1	-	7	1563	c.1009_splice	c.e7+1	p.V336_splice	CSMD1_ENST00000400186.3_Splice_Site_p.V336_splice|CSMD1_ENST00000542608.1_Splice_Site_p.V336_splice|CSMD1_ENST00000602723.1_Splice_Site_p.V336_splice|CSMD1_ENST00000537824.1_Splice_Site_p.V336_splice|CSMD1_ENST00000539096.1_Splice_Site_p.V336_splice|CSMD1_ENST00000520002.1_Splice_Site_p.V336_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	336						integral to membrane		p.V336V(1)|p.V64V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGACTCACAGACAGAGTTTT	0.478000													7	36					1.26484e-09	1.73355e-09	0.003080	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128844829	128844829	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:128844829G>T	ENST00000274487.4	+	3	934	c.789G>T	c.(787-789)atG>atT	p.M263I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	263					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.M263I(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGATACAATGGCCATAACAG	0.383000													21	23					1.36565e-18	2.36606e-18	0.016522	1	0
USH2A	7399	broad.mit.edu	37	1	216062061	216062061	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:216062061A>T	ENST00000366943.2	-	41	8316	c.7930T>A	c.(7930-7932)Tgg>Agg	p.W2644R	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.W2644R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2644	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W2644R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGGGTTGCCAAGATATAATC	0.507000										HNSCC(13;0.011)			10	50					0	0	0.010729	0	0
GUCY2F	2986	broad.mit.edu	37	X	108684682	108684682	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:108684682C>A	ENST00000218006.2	-	7	1890	c.1599G>T	c.(1597-1599)caG>caT	p.Q533H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	533	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.Q533H(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTGAGGTAATCTGGAAGCTTA	0.428000													95	235					7.70235e-37	1.50723e-36	0.014410	1	0
CRX	1406	broad.mit.edu	37	19	48343139	48343139	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:48343139C>A	ENST00000221996.7	+	4	1021	c.815C>A	c.(814-816)cCc>cAc	p.P272H	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.P272H	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	272					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P272H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TTCAAGGACCCCACGGGCACC	0.587000													53	151					5.39261e-20	9.50083e-20	0.014410	1	0
PDZD7	79955	broad.mit.edu	37	10	102783789	102783789	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:102783789C>A	ENST00000370215.3	-	3	488	c.263G>T	c.(262-264)cGg>cTg	p.R88L	PDZD7_ENST00000470414.1_Missense_Mutation_p.R88L	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	88	PDZ 1.					cilium|nucleus	protein binding	p.R88L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CTTCTCCACCCGGACTGAATG	0.592000													17	46					2.48551e-13	3.89247e-13	0.004990	1	0
CLSPN	63967	broad.mit.edu	37	1	36217085	36217085	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:36217085T>A	ENST00000251195.5	-	10	1890	c.1794A>T	c.(1792-1794)aaA>aaT	p.K598N	CLSPN_ENST00000520551.1_Missense_Mutation_p.K598N|CLSPN_ENST00000373220.3_Missense_Mutation_p.K534N|CLSPN_ENST00000318121.3_Missense_Mutation_p.K598N			Q9HAW4	CLSPN_HUMAN	claspin	598					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	p.K598N(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCAGTTTAGCTTTTAACACCT	0.378000													12	32					0	0	0.016723	0	0
PLXNA4	91584	broad.mit.edu	37	7	131830040	131830040	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:131830040A>C	ENST00000359827.3	-	29	6025	c.5063T>G	c.(5062-5064)cTg>cGg	p.L1688R	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1688R			Q9HCM2	PLXA4_HUMAN	plexin A4	1688						integral to membrane|intracellular|plasma membrane		p.L1688R(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAACTTCTGCAGTGTGCCCTG	0.547000													7	33					0	0	0.003080	0	0
AQP12B	653437	broad.mit.edu	37	2	241622087	241622087	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:241622087C>G	ENST00000407834.3	-	1	230	c.168G>C	c.(166-168)acG>acC	p.T56T		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	44						integral to membrane	transporter activity	p.T56T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCTCGACCAGCGTCCTCATCT	0.701000													6	43					0	0	0.021553	0	0
ADCK4	79934	broad.mit.edu	37	19	41206254	41206254	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:41206254C>A	ENST00000324464.3	-	11	1297	c.996G>T	c.(994-996)ctG>ctT	p.L332L	ADCK4_ENST00000243583.6_Silent_p.L291L|ADCK4_ENST00000450541.1_Silent_p.L291L	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	332	Protein kinase.					integral to membrane	protein serine/threonine kinase activity	p.L332L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GGCACTGGTCCAGGGGGACCC	0.662000													5	67					0.00116845	0.00127745	0.021553	1	0
PNKD	25953	broad.mit.edu	37	2	219204767	219204767	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:219204767C>G	ENST00000273077.4	+	4	419	c.368C>G	c.(367-369)cCc>cGc	p.P123R	PNKD_ENST00000436005.2_Missense_Mutation_p.P63R|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Missense_Mutation_p.P99R	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	123						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	p.P123R(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGTGCTTCCCATCCCTGTC	0.647000													19	40					0	0	0.008871	0	0
ATP11C	286410	broad.mit.edu	37	X	138850587	138850587	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:138850587C>A	ENST00000370557.1	-	20	3250	c.2223G>T	c.(2221-2223)tgG>tgT	p.W741C	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.W744C|ATP11C_ENST00000361648.2_Missense_Mutation_p.W744C|ATP11C_ENST00000370543.1_Missense_Mutation_p.W744C|ATP11C_ENST00000359686.2_Missense_Mutation_p.W744C			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	744					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.W744C(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GATGTTCTGTCCATGCTCTGA	0.338000													29	31					6.38683e-12	9.52999e-12	0.008361	1	0
USP29	57663	broad.mit.edu	37	19	57640595	57640595	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:57640595G>T	ENST00000254181.4	+	4	1006	c.552G>T	c.(550-552)ctG>ctT	p.L184L	USP29_ENST00000598197.1_Silent_p.L184L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	184					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L184L(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGACATTCTGAAGGAAGATA	0.358000													33	94					6.05902e-23	1.10482e-22	0.017118	1	0
MORN5	254956	broad.mit.edu	37	9	124936922	124936922	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:124936922C>G	ENST00000536616.1	+	4	493	c.455C>G	c.(454-456)aCa>aGa	p.T152R	MORN5_ENST00000486801.1_Intron|MORN5_ENST00000373764.3_Intron			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	0										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TTTCTTCCGACACTGCAGCAC	0.443000													20	37					0	0	0.012319	0	0
NPAP1	23742	broad.mit.edu	37	15	24923730	24923730	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:24923730G>T	ENST00000329468.2	+	1	3190	c.2716G>T	c.(2716-2718)Ggg>Tgg	p.G906W		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.G906W(2)									GGCCACTGATGGGCAGCAGAA	0.502000													34	46					8.4185e-14	1.33645e-13	0.012213	1	0
GUSBP1	728411	broad.mit.edu	37	5	21459682	21459682	+	RNA	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:21459682G>T	ENST00000607545.1	+	0	18					NR_027026.1																						GAGCGCTCTGGGCCCAGCGAA	0.637000											OREG0016459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	123					4.36969e-10	6.11757e-10	0.016723	1	0
COL11A1	1301	broad.mit.edu	37	1	103412437	103412437	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:103412437G>T	ENST00000358392.2	-	42	3597	c.3280C>A	c.(3280-3282)Cct>Act	p.P1094T	COL11A1_ENST00000512756.1_Missense_Mutation_p.P966T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1082T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1043T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1082	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.P1082T(1)|p.P1094T(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCAGGAGGACCCTGAGGT	0.473000													5	23					0.014758	0.0154389	0.014758	1	0
DNAJC27	51277	broad.mit.edu	37	2	25190085	25190085	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:25190085G>T	ENST00000264711.2	-	2	354	c.165C>A	c.(163-165)gtC>gtA	p.V55V	DNAJC27_ENST00000534855.1_5'UTR|DNAJC27_ENST00000468467.1_5'UTR	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	55					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding	p.V55V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CTTACTTTGTGACTCCATAGT	0.348000													23	33					9.86323e-18	1.692e-17	0.021523	1	0
ENOX2	10495	broad.mit.edu	37	X	129837135	129837135	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:129837135C>G	ENST00000338144.3	-	5	560	c.143G>C	c.(142-144)gGa>gCa	p.G48A	ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Missense_Mutation_p.G19A|ENOX2_ENST00000370927.1_Missense_Mutation_p.G48A|ENOX2_ENST00000370935.1_Missense_Mutation_p.G19A	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	48					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	p.G48A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CGGTGCCATTCCAAGATTATT	0.413000													22	81					0	0	0.016522	0	0
ISX	91464	broad.mit.edu	37	22	35478514	35478514	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:35478514G>A	ENST00000308700.6	+	2	1185	c.233G>A	c.(232-234)gGa>gAa	p.G78E	ISX_ENST00000404699.2_Missense_Mutation_p.G78E	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	78						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G78E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CATGCAGAAGGAAGGAAGAGC	0.547000													10	34					0	0	0.008291	0	0
CADPS	8618	broad.mit.edu	37	3	62467524	62467524	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:62467524G>T	ENST00000383710.4	-	22	3396	c.3047C>A	c.(3046-3048)cCc>cAc	p.P1016H	CADPS_ENST00000283269.9_Intron|CADPS_ENST00000357948.3_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1016	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.P1016H(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTTCACATTGGGTAGGTTACT	0.433000													55	54					2.69953e-25	4.99222e-25	0.014410	1	0
LNX1	84708	broad.mit.edu	37	4	54439849	54439849	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:54439849G>C	ENST00000263925.7	-	2	635	c.321C>G	c.(319-321)ttC>ttG	p.F107L	FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	107						cytoplasm	zinc ion binding	p.F107L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTGCTCCCTGAATGGGCAGG	0.577000													4	7					0	0	0.021553	0	0
CYP2B6	1555	broad.mit.edu	37	19	41522649	41522649	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:41522649C>T	ENST00000324071.4	+	9	1400	c.1393C>T	c.(1393-1395)Cca>Tca	p.P465S	CYP2B6_ENST00000593831.1_Missense_Mutation_p.P229S|CYP2B6_ENST00000330446.5_Missense_Mutation_p.P265S	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	465					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.P465S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCCCGTGGCCCCAGAAGACAT	0.587000													12	33					0	0	0.013537	0	0
RP1L1	94137	broad.mit.edu	37	8	10468597	10468597	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:10468597C>A	ENST00000382483.3	-	4	3234	c.3011G>T	c.(3010-3012)gGg>gTg	p.G1004V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1004					intracellular signal transduction			p.G1004V(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGCTGGCTCCCCCAGGCCTTC	0.662000													22	39					0.00229938	0.00248266	0.014323	1	0
TNMD	64102	broad.mit.edu	37	X	99854595	99854595	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:99854595G>A	ENST00000373031.4	+	7	1052	c.835G>A	c.(835-837)Gtc>Atc	p.V279I		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	279						integral to membrane		p.V279I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						TTGCCGCCGCGTCTGTGAACC	0.488000													4	31					0	0	0.009096	0	0
SEL1L2	80343	broad.mit.edu	37	20	13858199	13858199	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:13858199G>T	ENST00000284951.5	-	11	1067	c.993C>A	c.(991-993)gcC>gcA	p.A331A	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.A331A			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	331						integral to membrane	binding	p.A331A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTGCACTCCCGGCCTTTGCTG	0.353000													11	52					1.05317e-09	1.44915e-09	0.020292	1	0
ALDH8A1	64577	broad.mit.edu	37	6	135250221	135250221	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:135250221C>A	ENST00000265605.2	-	6	1050	c.982G>T	c.(982-984)Gct>Tct	p.A328S	ALDH8A1_ENST00000367845.2_Intron|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.A278S	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	328					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.A328S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CTTATCAGAGCACCTATGCTC	0.388000													11	54					6.40141e-05	7.32091e-05	0.010729	1	0
MMP12	4321	broad.mit.edu	37	11	102745613	102745613	+	RNA	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:102745613G>A	ENST00000532855.1	-	0	151							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.L19L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GAGCTGTTCAGGGGAAGAGCT	0.383000													5	2					0	0	0.014758	0	0
ZNF98	148198	broad.mit.edu	37	19	22586234	22586234	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:22586234T>A	ENST00000357774.5	-	2	232	c.111A>T	c.(109-111)ttA>ttT	p.L37F	ZNF98_ENST00000601553.1_Missense_Mutation_p.L37F	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L37F(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CATTCCTATATAAATTCTGCT	0.388000													8	70					0	0	0.003080	0	0
ABCA13	154664	broad.mit.edu	37	7	48314899	48314899	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:48314899G>T	ENST00000435803.1	+	17	5660	c.5636G>T	c.(5635-5637)cGa>cTa	p.R1879L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1879					transport	integral to membrane	ATP binding|ATPase activity	p.R1879Q(1)|p.R1824L(1)|p.R1879L(1)|p.R1824Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAAAGCTCCCGAATGGAAATA	0.403000													41	34					4.92203e-23	8.99067e-23	0.025465	1	0
GMCL1	64395	broad.mit.edu	37	2	70096905	70096905	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:70096905A>G	ENST00000282570.3	+	12	1524	c.1273A>G	c.(1273-1275)Acc>Gcc	p.T425A		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	425					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix		p.T425A(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TGTAACTTACACCAATCGATA	0.398000													42	75					0	0	0.013114	0	0
CELA1	1990	broad.mit.edu	37	12	51737560	51737560	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:51737560C>A	ENST00000293636.1	-	3	217	c.177G>T	c.(175-177)atG>atT	p.M59I		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	59	Peptidase S1.		M -> V (in dbSNP:rs17860300).		proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.M59I(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						GAGCAGCTGTCATCACCCAGT	0.498000													6	22					2.7689e-08	3.60995e-08	0.001984	1	0
DNAJC10	54431	broad.mit.edu	37	2	183586760	183586760	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:183586760G>A	ENST00000264065.6	+	5	791	c.376G>A	c.(376-378)Gat>Aat	p.D126N	DNAJC10_ENST00000537515.1_Missense_Mutation_p.D126N|DNAJC10_ENST00000469118.1_3'UTR	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	126					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	p.D126N(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			aGGTATTTATGATGATGATCC	0.244000													11	52					0	0	0.008291	0	0
FST	10468	broad.mit.edu	37	5	52781807	52781807	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:52781807G>T	ENST00000256759.3	+	6	1362	c.979G>T	c.(979-981)Gag>Tag	p.E327*	FST_ENST00000396947.3_3'UTR	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	327	Asp/Glu-rich (highly acidic).				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	p.E327*(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CGAGGAAGAGGAGGAAGATGA	0.438000													36	64					3.61848e-18	6.23814e-18	0.007835	1	0
MUC17	140453	broad.mit.edu	37	7	100684607	100684607	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:100684607A>C	ENST00000306151.4	+	3	9974	c.9910A>C	c.(9910-9912)Act>Cct	p.T3304P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3304	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T3304P(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTTTCAACAACTCCTGCTGA	0.493000													10	496					0	0	0.024245	0	0
TPK1	27010	broad.mit.edu	37	7	144320281	144320281	+	Translation_Start_Site	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:144320281T>A	ENST00000549981.1	-	0	582				TPK1_ENST00000378099.3_Missense_Mutation_p.K111M|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000360057.3_Missense_Mutation_p.K111M|TPK1_ENST00000538212.2_Missense_Mutation_p.K106M			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1						thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	p.K111M(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TTCTTCTATCTTCTTTTGGAG	0.323000													31	115					0	0	0.008361	0	0
OR13F1	138805	broad.mit.edu	37	9	107267269	107267269	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:107267269A>G	ENST00000334726.2	+	1	815	c.726A>G	c.(724-726)acA>acG	p.T242T		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T242M(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAACGTGCACAGCCCACCTGA	0.463000													39	56					0	0	0.008740	0	0
VSNL1	7447	broad.mit.edu	37	2	17830709	17830709	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:17830709C>A	ENST00000406397.1	+	3	720	c.195C>A	c.(193-195)gcC>gcA	p.A65A	VSNL1_ENST00000404666.2_Silent_p.A65A|VSNL1_ENST00000295156.4_Silent_p.A65A			P62760	VISL1_HUMAN	visinin-like 1	65	EF-hand 2.		A -> G (in dbSNP:rs1042674).				calcium ion binding	p.A65A(1)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCAAGTTTGCCCAGCATGCCT	0.572000													25	91					7.26314e-15	1.17814e-14	0.007291	1	0
TMPRSS11F	389208	broad.mit.edu	37	4	68964603	68964603	+	Splice_Site	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:68964603A>G	ENST00000356291.2	-	2	223		c.e2+1			NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F						proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CTGGATACTTACCCTCAACAA	0.353000													34	50					0	0	0.017118	0	0
HDX	139324	broad.mit.edu	37	X	83616487	83616487	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:83616487C>A	ENST00000297977.5	-	5	1550	c.1439G>T	c.(1438-1440)tGt>tTt	p.C480F	HDX_ENST00000506585.2_Missense_Mutation_p.C422F|HDX_ENST00000373177.2_Missense_Mutation_p.C480F	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	480						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AACTATTTCACAGTCAACATT	0.383000													6	32					0.00198382	0.00214417	0.001984	1	0
DGKI	9162	broad.mit.edu	37	7	137363342	137363342	+	Translation_Start_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:137363342G>T	ENST00000453654.1	-	0	206				DGKI_ENST00000288490.5_Silent_p.L189L|DGKI_ENST00000446122.1_Silent_p.L189L|DGKI_ENST00000424189.2_Silent_p.L189L			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.L189L(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAAGGTAGCAGAGGTCTCCCG	0.522000													47	164					6.81593e-30	1.29964e-29	0.014410	1	0
DCDC1	341019	broad.mit.edu	37	11	30914467	30914467	+	Silent	SNP	C	C	A	rs116099904	by1000genomes	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:30914467C>A	ENST00000597505.1	-	34	4970	c.4971G>T	c.(4969-4971)ccG>ccT	p.P1657P	DCDC1_ENST00000406071.2_Silent_p.P395P			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.P347P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACAGGTTGCTCGGCTTGACTG	0.423000													21	68					2.89027e-11	4.21026e-11	0.014323	1	0
STAG2	10735	broad.mit.edu	37	X	123220443	123220443	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:123220443A>T	ENST00000371160.1	+	30	3390	c.3100A>T	c.(3100-3102)Aga>Tga	p.R1034*	STAG2_ENST00000218089.9_Nonsense_Mutation_p.R1034*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R1034*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R965*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R1034*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R1034*			Q8N3U4	STAG2_HUMAN	stromal antigen 2	1034					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.R1034*(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTCACTCCGAAGAGAGGATGT	0.423000													26	90					0	0	0.008361	0	0
ASTN2	23245	broad.mit.edu	37	9	119488128	119488128	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:119488128A>G	ENST00000313400.4	-	16	2828	c.2728T>C	c.(2728-2730)Tat>Cat	p.Y910H	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.Y859H|ASTN2_ENST00000373996.3_Missense_Mutation_p.Y906H			O75129	ASTN2_HUMAN	astrotactin 2	910						integral to membrane		p.Y859H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCTGAGCCATAGAGGGCCTCT	0.547000													16	109					0	0	0.028581	0	0
FAT3	120114	broad.mit.edu	37	11	92616381	92616381	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:92616381G>T	ENST00000298047.6	+	23	12776	c.12759G>T	c.(12757-12759)gtG>gtT	p.V4253V	FAT3_ENST00000533797.1_Silent_p.V588V|FAT3_ENST00000409404.2_Silent_p.V4253V|FAT3_ENST00000525166.1_Silent_p.V4103V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4253					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V4253V(2)|p.V828V(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATAAGATCGTGGACGGGCTGG	0.667000										TCGA Ovarian(4;0.039)			60	58					1.88225e-35	3.66951e-35	0.014410	1	0
ANKK1	255239	broad.mit.edu	37	11	113267990	113267990	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:113267990C>A	ENST00000303941.3	+	6	977	c.883C>A	c.(883-885)Cgt>Agt	p.R295S		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	295							ATP binding|protein serine/threonine kinase activity	p.R295S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCTGCAGAGTCGTGTGGCAGT	0.602000													10	11					6.40141e-05	7.32091e-05	0.010729	1	0
KMT2D	8085	broad.mit.edu	37	12	49444341	49444341	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:49444341C>T	ENST00000301067.7	-	11	3029	c.3030G>A	c.(3028-3030)ggG>ggA	p.G1010G		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.G1010G(1)|p.G737G(1)									GAGAAGCCGGCCCCACTGGGG	0.612000													33	36					0	0	0.027894	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144070359	144070359	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:144070359G>C	ENST00000056217.5	+	10	4296	c.4122G>C	c.(4120-4122)aaG>aaC	p.K1374N	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.K296N	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1374					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.K1374N(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGAGCCAGAAGATTGAGTTTG	0.532000													24	60					0	0	0.009535	0	0
GPC5	2262	broad.mit.edu	37	13	93518679	93518679	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:93518679C>A	ENST00000377067.3	+	8	2078	c.1706C>A	c.(1705-1707)cCc>cAc	p.P569H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	569						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P569H(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATGTTACTTCCCGGGATTTGG	0.433000													38	53					2.05212e-20	3.62773e-20	0.023175	1	0
CCDC138	165055	broad.mit.edu	37	2	109415040	109415040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:109415040G>T	ENST00000295124.4	+	6	793	c.733G>T	c.(733-735)Gag>Tag	p.E245*	CCDC138_ENST00000412964.2_Nonsense_Mutation_p.E245*	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	245								p.E245*(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						AATTATAAAAGAGGTAACTAT	0.294000													15	49					6.31663e-08	8.15376e-08	0.024245	1	0
TSHZ2	128553	broad.mit.edu	37	20	51870965	51870965	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:51870965G>T	ENST00000371497.5	+	2	1855	c.968G>T	c.(967-969)cGc>cTc	p.R323L	TSHZ2_ENST00000329613.6_Missense_Mutation_p.R320L|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R320L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	323					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R323L(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCTAAGAAACGCGTTTTTGAT	0.458000													18	80					7.07596e-05	8.06582e-05	0.006122	1	0
IL16	3603	broad.mit.edu	37	15	81584983	81584983	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:81584983G>T	ENST00000394660.2	+	12	1867	c.1507G>T	c.(1507-1509)Gct>Tct	p.A503S	IL16_ENST00000302987.4_Missense_Mutation_p.A503S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	503					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.A503S(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCATCGCAGGGCTCAGAAGGT	0.602000													13	31					4.36969e-10	6.11757e-10	0.016723	1	0
NAV3	89795	broad.mit.edu	37	12	78583961	78583961	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:78583961G>T	ENST00000397909.2	+	34	6426	c.6253G>T	c.(6253-6255)Gca>Tca	p.A2085S	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Missense_Mutation_p.A1886S|NAV3_ENST00000536525.2_Missense_Mutation_p.A2063S|NAV3_ENST00000228327.6_Missense_Mutation_p.A2063S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2085						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.A2063S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AACAGAGGATGCAATTGCCAC	0.353000										HNSCC(70;0.22)			22	25					1.22574e-08	1.62034e-08	0.014323	1	0
FLAD1	80308	broad.mit.edu	37	1	154962050	154962050	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:154962050A>G	ENST00000368433.1	+	3	1475	c.1132A>G	c.(1132-1134)Aaa>Gaa	p.K378E	FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368432.1_Missense_Mutation_p.K281E|FLAD1_ENST00000292180.3_Missense_Mutation_p.K378E|FLAD1_ENST00000315144.10_Missense_Mutation_p.K281E|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000405236.2_Intron			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	378					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	p.K378E(3)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTCTTTGGGGAAAAAGGTGGC	0.567000													5	102					0	0	0.021553	0	0
ZNF606	80095	broad.mit.edu	37	19	58490843	58490843	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:58490843T>A	ENST00000341164.4	-	7	1825	c.1205A>T	c.(1204-1206)tAc>tTc	p.Y402F	ZNF606_ENST00000536132.1_Missense_Mutation_p.Y312F	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y402F(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ACATTCATTGTAGTCATAGGG	0.373000													49	53					0	0	0.014410	0	0
TMEM202	338949	broad.mit.edu	37	15	72691081	72691081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:72691081C>T	ENST00000341689.3	+	2	223	c.169C>T	c.(169-171)Cga>Tga	p.R57*	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	57						integral to membrane		p.R57*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CATCTACATCCGAACGCTCTG	0.517000													7	36					0	0	0.003080	0	0
GABRP	2568	broad.mit.edu	37	5	170235647	170235647	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:170235647T>C	ENST00000518525.1	+	9	1187	c.723T>C	c.(721-723)aaT>aaC	p.N241N	GABRP_ENST00000265294.4_Silent_p.N241N|GABRP_ENST00000519598.1_Silent_p.N241N|GABRP_ENST00000519385.1_Silent_p.N241N			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	241						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.N241N(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCGGAGGAATGTTCTGTATT	0.418000													6	39					0	0	0.021553	0	0
OR4C6	219432	broad.mit.edu	37	11	55432949	55432949	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:55432949C>A	ENST00000314259.3	+	1	336	c.307C>A	c.(307-309)Cat>Aat	p.H103N		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H103N(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTTTGTGGAGCATTTCTTTGG	0.532000													14	49					0.000219431	0.000246094	0.020292	1	0
FAT4	79633	broad.mit.edu	37	4	126373104	126373104	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:126373104G>A	ENST00000394329.3	+	9	10946	c.10933G>A	c.(10933-10935)Gac>Aac	p.D3645N	FAT4_ENST00000335110.5_Missense_Mutation_p.D1943N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3645					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D3645N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGATGTGTTAGACAGCTTCCA	0.478000													32	47					0	0	0.015359	0	0
LRRC52	440699	broad.mit.edu	37	1	165532835	165532835	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:165532835A>T	ENST00000294818.1	+	2	1006	c.716A>T	c.(715-717)cAc>cTc	p.H239L	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	239						integral to membrane		p.H239L(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGCATCACGCACCTGGACCAC	0.572000													12	23					0	0	0.013537	0	0
SORCS3	22986	broad.mit.edu	37	10	106737195	106737195	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:106737195C>A	ENST00000369701.3	+	4	1125	c.898C>A	c.(898-900)Ctg>Atg	p.L300M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	300						integral to membrane	neuropeptide receptor activity	p.L300M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATCCAGAGCCTGCTCTTTCA	0.458000													17	45					1.15919e-05	1.3739e-05	0.008871	1	0
CDHR3	222256	broad.mit.edu	37	7	105662892	105662892	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:105662892A>T	ENST00000542731.1	+	14	2182	c.2074A>T	c.(2074-2076)Agg>Tgg	p.R692W	CDHR3_ENST00000317716.9_Missense_Mutation_p.R692W|CDHR3_ENST00000478080.1_Missense_Mutation_p.R604W|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	692	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R692W(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CACGACCCCCAGGGTAAGGGC	0.522000													310	108					0	0	0.014410	0	0
SEC24B	10427	broad.mit.edu	37	4	110452656	110452656	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:110452656G>T	ENST00000265175.5	+	20	3423	c.3368G>T	c.(3367-3369)aGg>aTg	p.R1123M	SEC24B_ENST00000399100.2_Missense_Mutation_p.R1088M|SEC24B_ENST00000504968.2_Missense_Mutation_p.R1153M	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1123					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	p.R1123M(1)|p.R1088M(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AACTTATACAGGATAGACAGA	0.348000													15	73					1.15088e-07	1.45852e-07	0.028581	1	0
RP1	6101	broad.mit.edu	37	8	55534687	55534687	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:55534687T>G	ENST00000220676.1	+	3	774	c.626T>G	c.(625-627)cTc>cGc	p.L209R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	209	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.L19R(1)|p.L209R(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTCCCAGCCTCCAGGCAGTG	0.428000													8	31					0	0	0.006214	0	0
KIF1B	23095	broad.mit.edu	37	1	10431226	10431226	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:10431226G>T	ENST00000377086.1	+	45	5054	c.4852G>T	c.(4852-4854)Gat>Tat	p.D1618Y	KIF1B_ENST00000263934.6_Missense_Mutation_p.D1572Y|KIF1B_ENST00000377081.1_Missense_Mutation_p.D1618Y			O60333	KIF1B_HUMAN	kinesin family member 1B	1618					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.D1572Y(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AATTGGACGGGATCCCTCTGA	0.483000													23	36					1.1804e-14	1.91173e-14	0.021523	1	0
PCDH15	65217	broad.mit.edu	37	10	55570366	55570366	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:55570366C>A	ENST00000373965.2	-	35	4847	c.4453G>T	c.(4453-4455)Gaa>Taa	p.E1485*	PCDH15_ENST00000395438.1_Missense_Mutation_p.R1501S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E1485*|PCDH15_ENST00000409834.1_Missense_Mutation_p.R1112S|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E1482*|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.E1482*(1)|p.R1501S(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCACCATATTCCTCCTGTCCA	0.368000										HNSCC(58;0.16)			8	111					0.00448238	0.004795	0.004482	1	0
ZIC1	7545	broad.mit.edu	37	3	147128846	147128846	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:147128846C>G	ENST00000282928.4	+	1	1676	c.947C>G	c.(946-948)tCc>tGc	p.S316C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	316					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S316C(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TTCGCGCGCTCCGAGAATTTA	0.552000													19	22					0	0	0.006122	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156418	70156418	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:70156418C>A	ENST00000335568.5	+	5	1201	c.1199C>A	c.(1198-1200)cCt>cAt	p.P400H	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	400					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.P400N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TGGGATCAACCTGATAACATT	0.453000													47	142					1.86633e-21	3.33891e-21	0.014410	1	0
RBM33	155435	broad.mit.edu	37	7	155504087	155504087	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:155504087A>G	ENST00000401878.3	+	8	1337	c.1139A>G	c.(1138-1140)cAg>cGg	p.Q380R	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	380	Pro-rich.						nucleotide binding|RNA binding	p.Q380R(2)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTGACTCCACAGCAGCCCAAG	0.562000													13	23					0	0	0.013537	0	0
NEB	4703	broad.mit.edu	37	2	152432208	152432208	+	Splice_Site	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:152432208C>T	ENST00000427231.2	-	107	17216		c.e107+1		NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000409198.1_Splice_Site	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.?(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTAGTACTTACATTGCTCACA	0.423000													64	155					0	0	0.014410	0	0
KIAA0100	9703	broad.mit.edu	37	17	26955577	26955577	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:26955577C>A	ENST00000528896.2	-	24	4374	c.4299_splice	c.e24-1	p.E1434_splice	KIAA0100_ENST00000544884.1_Splice_Site_p.E1291_splice|KIAA0100_ENST00000389003.3_Splice_Site_p.E1291_splice	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1434						extracellular region		p.E1434*(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCAGAGAGCTCCTAAGAAACA	0.458000													25	43					2.27525e-19	3.96175e-19	0.021523	1	0
PDE4D	5144	broad.mit.edu	37	5	58273027	58273027	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:58273027G>T	ENST00000340635.6	-	12	1873	c.1698C>A	c.(1696-1698)gtC>gtA	p.V566V	PDE4D_ENST00000503258.1_Silent_p.V436V|PDE4D_ENST00000358923.6_Silent_p.V264V|PDE4D_ENST00000546160.1_Silent_p.V505V|PDE4D_ENST00000317118.8_Silent_p.V275V|PDE4D_ENST00000502484.2_Silent_p.V505V|PDE4D_ENST00000360047.5_Silent_p.V430V|PDE4D_ENST00000405755.2_Silent_p.V444V|PDE4D_ENST00000507116.1_Silent_p.V502V	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	566					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.V430V(2)|p.V502V(1)|p.V505V(1)|p.V436V(1)|p.V444V(1)|p.V566V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CGATGTCAATGACCATTTTCC	0.338000													22	44					1.55469e-16	2.6154e-16	0.018920	1	0
GALNT5	11227	broad.mit.edu	37	2	158142619	158142619	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:158142619A>T	ENST00000259056.4	+	3	2199	c.1714A>T	c.(1714-1716)Agg>Tgg	p.R572W		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	572	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R572W(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AATAAGGGCCAGGCTGGCAGG	0.343000													10	31					0	0	0.013537	0	0
LRIT2	340745	broad.mit.edu	37	10	85982287	85982287	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:85982287G>T	ENST00000372113.4	-	3	1047	c.1042C>A	c.(1042-1044)Cag>Aag	p.Q348K	LRIT2_ENST00000538192.1_Missense_Mutation_p.Q358K	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	348						integral to membrane		p.Q348K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGTAGGGCCTGGGCAGGCTGG	0.542000													4	20					0.00024832	0.000277597	0.009096	1	0
C8orf37	157657	broad.mit.edu	37	8	96259924	96259924	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:96259924T>A	ENST00000286688.5	-	6	556	c.545A>T	c.(544-546)cAg>cTg	p.Q182L		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	182								p.Q182L(1)		kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					CCAGCTACACTGGCAGGCATA	0.403000													9	49					0	0	0.004482	0	0
ZNF595	152687	broad.mit.edu	37	4	59439	59439	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:59439G>T	ENST00000509152.2	+	2	305	c.120G>T	c.(118-120)ctG>ctT	p.L40L	ZNF595_ENST00000526473.2_Silent_p.L40L|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595									p.L40L(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ACAGGAACCTGGTCTCCCTGG	0.443000													30	404					3.1745e-13	4.95659e-13	0.008361	1	0
OR52M1	119772	broad.mit.edu	37	11	4567362	4567362	+	Missense_Mutation	SNP	G	G	T	rs77669724		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:4567362G>T	ENST00000360213.1	+	1	942	c.942G>T	c.(940-942)atG>atT	p.M314I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M314I(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATAGAAATGAAGATTAGAT	0.403000													7	43					5.68852e-11	8.19493e-11	0.004482	1	0
RBP3	5949	broad.mit.edu	37	10	48387881	48387881	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:48387881C>A	ENST00000224600.4	-	1	3110	c.2997G>T	c.(2995-2997)aaG>aaT	p.K999N		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	999	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.K999N(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TATGGGCTGCCTTCAGGTGTG	0.617000													28	63					2.12542e-12	3.23622e-12	0.006320	1	0
MXRA5	25878	broad.mit.edu	37	X	3240048	3240048	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:3240048G>T	ENST00000217939.6	-	5	3832	c.3678C>A	c.(3676-3678)tcC>tcA	p.S1226S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1226						extracellular region		p.S1226S(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGTTCCCTTGGATGTGGGTT	0.498000													32	98					1.08312e-15	1.78749e-15	0.009535	1	0
ACRC	93953	broad.mit.edu	37	X	70811981	70811981	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:70811981T>A	ENST00000373695.1	+	2	606	c.69T>A	c.(67-69)ctT>ctA	p.L23L	ACRC_ENST00000373696.3_Silent_p.L23L			Q96QF7	ACRC_HUMAN	acidic repeat containing	23						nucleus		p.L23L(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTTACATCCTTAATGTTCAGT	0.373000													15	73					0	0	0.020292	0	0
CDH18	1016	broad.mit.edu	37	5	19473591	19473591	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:19473591G>T	ENST00000507958.1	-	15	3107	c.2117C>A	c.(2116-2118)aCc>aAc	p.T706N	CDH18_ENST00000274170.4_Missense_Mutation_p.T706N|CDH18_ENST00000382275.1_Missense_Mutation_p.T706N|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	706					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T706N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCTTTCCAGGGTGGATGATGT	0.493000													19	49					1.56452e-12	2.38916e-12	0.007413	1	0
SF3B5	83443	broad.mit.edu	37	6	144416564	144416564	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:144416564G>A	ENST00000367569.2	-	1	190	c.71C>T	c.(70-72)gCc>gTc	p.A24V		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	24					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex		p.A24V(1)		lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		GGTGGTGTCGGCGTGGCCCGT	0.597000													3	30					0	0	0.004672	0	0
MEGF10	84466	broad.mit.edu	37	5	126734443	126734443	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:126734443G>T	ENST00000274473.6	+	8	1002	c.735G>T	c.(733-735)gtG>gtT	p.V245V	MEGF10_ENST00000418761.2_Silent_p.V245V|MEGF10_ENST00000503335.2_Silent_p.V245V|MEGF10_ENST00000508365.1_Silent_p.V245V	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	245	EGF-like 4.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.V245V(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGGAGGAGTGTGTCATCACG	0.522000													22	37					5.35356e-11	7.73374e-11	0.016522	1	0
FMO4	2329	broad.mit.edu	37	1	171306562	171306562	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:171306562A>G	ENST00000367749.3	+	9	1578	c.1248A>G	c.(1246-1248)aaA>aaG	p.K416K		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	416					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.K416K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGCTCATTAAAAGGTATGAAA	0.378000													20	44					0	0	0.008871	0	0
RUFY2	55680	broad.mit.edu	37	10	70154087	70154087	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:70154087G>C	ENST00000388768.2	-	5	951	c.625C>G	c.(625-627)Caa>Gaa	p.Q209E	RUFY2_ENST00000454950.2_Missense_Mutation_p.Q116E|RUFY2_ENST00000342616.4_Missense_Mutation_p.Q174E|RUFY2_ENST00000399200.2_Missense_Mutation_p.Q140E|RUFY2_ENST00000602465.1_Missense_Mutation_p.Q174E|RUFY2_ENST00000472394.2_5'UTR	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	223	RUN.					nucleus	metal ion binding	p.Q209E(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TCACTTACTTGTGAGTCTAAA	0.423000													13	22					0	0	0.020292	0	0
SCN1A	6323	broad.mit.edu	37	2	166901690	166901690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:166901690G>A	ENST00000423058.2	-	10	1542	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q509*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q509*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.Q509*|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	509						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q509*(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCACCAGACTGCTCTTTCTGT	0.458000													59	240					0	0	0.014410	0	0
MIF4GD	57409	broad.mit.edu	37	17	73263869	73263869	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:73263869G>T	ENST00000577542.1	-	5	691	c.429C>A	c.(427-429)gtC>gtA	p.V143V	MIF4GD_ENST00000325102.8_Silent_p.V102V|MIF4GD_ENST00000245551.5_Silent_p.V136V|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000579297.1_Silent_p.V143V|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000579119.1_Silent_p.V102V			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	102	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding	p.V136V(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TGACATAGCAGACCCAGCCCT	0.622000													13	52					1.5842e-08	2.08101e-08	0.016723	1	0
GK2	2712	broad.mit.edu	37	4	80328582	80328582	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:80328582C>T	ENST00000358842.3	-	1	790	c.773G>A	c.(772-774)gGg>gAg	p.G258E		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	258					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.G258E(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACATTGGTCCCCCAAACACCC	0.458000													17	95					0	0	0.004990	0	0
KLF8	11279	broad.mit.edu	37	X	56310868	56310868	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:56310868C>A	ENST00000468660.1	+	6	1309	c.1021C>A	c.(1021-1023)Cgc>Agc	p.R341S	KLF8_ENST00000374928.3_3'UTR	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R341S(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						AGACTGCAACCGCAGCTTTTC	0.562000													3	24					0.004672	0.00497234	0.004672	1	0
ZNF45	7596	broad.mit.edu	37	19	44417580	44417580	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:44417580C>G	ENST00000269973.5	-	10	3098	c.2008G>C	c.(2008-2010)Gac>Cac	p.D670H	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.D670H	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	670					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D670H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						GAAGGAAAGTCCTTGTCACCC	0.398000													22	65					0	0	0.016522	0	0
MGST1	4257	broad.mit.edu	37	12	16510579	16510579	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:16510579G>T	ENST00000535309.1	+	3	206	c.167G>T	c.(166-168)gGa>gTa	p.G56V	MGST1_ENST00000396209.1_Missense_Mutation_p.G56V|MGST1_ENST00000396210.3_Missense_Mutation_p.G56V|MGST1_ENST00000540056.1_Intron|MGST1_ENST00000396207.1_Missense_Mutation_p.G56V|MGST1_ENST00000010404.2_Missense_Mutation_p.G56V	NM_001267598.1	NP_001254527.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	56					protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity	p.G56V(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	TTTGGCAAAGGAGAAAATGCC	0.373000													16	32					5.35267e-07	6.67803e-07	0.007413	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140746231	140746231	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:140746231G>T	ENST00000518069.1	+	1	2334	c.2334G>T	c.(2332-2334)acG>acT	p.T778T	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.T778T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAGACACGCTCCTTAGTG	0.522000													16	107					4.14922e-12	6.21786e-12	0.028581	1	0
TVP23C	201158	broad.mit.edu	37	17	15406305	15406305	+	Missense_Mutation	SNP	T	T	G	rs141163711		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:15406305T>G	ENST00000225576.3	-	6	799	c.704A>C	c.(703-705)cAg>cCg	p.Q235P	TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2			trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)									p.Q235P(1)									GGGCGCCATCTGTTGGCAGTT	0.587000													7	21					0	0	0.001984	0	0
C7	730	broad.mit.edu	37	5	40950059	40950059	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:40950059G>T	ENST00000313164.9	+	9	1395	c.1036G>T	c.(1036-1038)Gtt>Ttt	p.V346F		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	346	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.V346F(1)					Ovarian(839;0.0112)				GCATTTTGTCGTTAAATTTTC	0.348000													6	7					2.0095e-06	2.45998e-06	0.001984	1	0
UTP20	27340	broad.mit.edu	37	12	101748667	101748667	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:101748667A>G	ENST00000261637.4	+	41	5339	c.5165A>G	c.(5164-5166)gAt>gGt	p.D1722G		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1722					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.D1722G(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAGCGTGTGGATGAGGAAGAG	0.433000													41	39					0	0	0.027894	0	0
MEPE	56955	broad.mit.edu	37	4	88766498	88766498	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:88766498G>T	ENST00000497649.2	+	6	784	c.406G>T	c.(406-408)Gcg>Tcg	p.A136S	MEPE_ENST00000560249.1_Missense_Mutation_p.A47S|MEPE_ENST00000424957.3_Missense_Mutation_p.A160S|MEPE_ENST00000361056.3_Missense_Mutation_p.A160S|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.A47S|MEPE_ENST00000395102.4_Missense_Mutation_p.A191S			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	160					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.A160S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GCCAGTGACTGCGATTAAACT	0.418000													8	61					0.000442599	0.000490054	0.006214	1	0
LAMA4	3910	broad.mit.edu	37	6	112439054	112439054	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:112439054G>T	ENST00000230538.7	-	35	5266	c.4869C>A	c.(4867-4869)ctC>ctA	p.L1623L	LAMA4_ENST00000522006.1_Silent_p.L1616L|LAMA4_ENST00000424408.2_Silent_p.L1616L|LAMA4_ENST00000389463.4_Silent_p.L1616L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1623	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.L1616L(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGGCCCCATTGAGCTGGAGAT	0.433000													13	94					7.03913e-09	9.36455e-09	0.013537	1	0
TTN	7273	broad.mit.edu	37	2	179529215	179529215	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179529215G>T	ENST00000589042.1	-	168	36476	c.36252C>A	c.(36250-36252)ccC>ccA	p.P12084P	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10233	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCCCTTTGGGGAGGATGCA	0.413000													41	107					8.94452e-30	1.7024e-29	0.014410	1	0
MFSD1	64747	broad.mit.edu	37	3	158522150	158522150	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:158522150A>T	ENST00000392813.4	+	2	429	c.349A>T	c.(349-351)Aag>Tag	p.K117*	MFSD1_ENST00000264266.8_Missense_Mutation_p.Q69L|MFSD1_ENST00000415822.2_Missense_Mutation_p.Q118L	NM_001167903.1	NP_001161375.1	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	75					transmembrane transport	integral to membrane		p.Q118L(1)|p.Q69L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTCAGACTCAAGTTAAACGA	0.368000													16	34					0	0	0.008871	0	0
MAP3K2	10746	broad.mit.edu	37	2	128075837	128075837	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:128075837C>G	ENST00000409947.1	-	13	1384	c.1102G>C	c.(1102-1104)Gga>Cga	p.G368R	MAP3K2_ENST00000344908.5_Missense_Mutation_p.G368R			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	368	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	p.G368R(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TAGACCCTTCCAAAGGCTCCT	0.443000													7	50					0	0	0.001984	0	0
INMT	11185	broad.mit.edu	37	7	30795407	30795407	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:30795407C>A	ENST00000013222.5	+	3	748	c.732C>A	c.(730-732)gtC>gtA	p.V244V	INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Silent_p.V243V|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	244						cytoplasm	amine N-methyltransferase activity	p.V244V(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GCTACTCTGTCACCAATGCTG	0.592000													33	96					8.4185e-14	1.33645e-13	0.012213	1	0
FTX	100302692	broad.mit.edu	37	X	73506941	73506941	+	RNA	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:73506941T>A	ENST00000429124.1	-	0	174				MIR545_ENST00000385085.1_RNA																							ATCCAGAGCCTGTGGAGCTCA	0.373000													22	94					0	0	0.010504	0	0
CUBN	8029	broad.mit.edu	37	10	17152917	17152917	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:17152917C>A	ENST00000377833.4	-	9	1081		c.e9+1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.?(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGAGGCAGCACCTGGTGGACA	0.502000													22	56					8.24728e-16	1.36973e-15	0.024334	1	0
PAX4	5078	broad.mit.edu	37	7	127253908	127253908	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:127253908G>A	ENST00000341640.2	-	4	645	c.440C>T	c.(439-441)cCc>cTc	p.P147L	PAX4_ENST00000463946.1_Missense_Mutation_p.P145L|PAX4_ENST00000338516.3_Missense_Mutation_p.P155L|PAX4_ENST00000378740.2_Missense_Mutation_p.P147L	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	155					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P147L(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCACTATGGGGAGTGAGGAC	0.562000													7	63					0	0	0.001984	0	0
HCFC1	3054	broad.mit.edu	37	X	153220719	153220719	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:153220719G>T	ENST00000310441.7	-	17	4097	c.3131C>A	c.(3130-3132)aCc>aAc	p.T1044N	HCFC1_ENST00000354233.3_Missense_Mutation_p.T975N|HCFC1_ENST00000369984.4_Missense_Mutation_p.T1044N	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1044					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.T947N(1)|p.T1044N(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCACTTGGGTGGGCTGGGG	0.597000													15	135					4.7546e-09	6.39053e-09	0.028581	1	0
ALS2CL	259173	broad.mit.edu	37	3	46723032	46723032	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:46723032C>G	ENST00000318962.4	-	12	1315	c.1232G>C	c.(1231-1233)tGt>tCt	p.C411S	ALS2CL_ENST00000415953.1_Missense_Mutation_p.C411S	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	411					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	p.C411S(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCGCCAGTGACACTTGTAACA	0.612000													33	18					0	0	0.017118	0	0
IGSF1	3547	broad.mit.edu	37	X	130409602	130409602	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:130409602G>A	ENST00000370904.1	-	22	3917	c.3007C>T	c.(3007-3009)Cag>Tag	p.Q1003*	IGSF1_ENST00000361420.3_Nonsense_Mutation_p.Q1012*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.Q1003*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.Q1017*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1012	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.Q1012*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCCCAGAGCTGCATTGAAGTG	0.537000													18	71					0	0	0.006122	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40464916	40464916	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:40464916T>G	ENST00000378438.4	+	9	1120	c.962T>G	c.(961-963)gTg>gGg	p.V321G	ATP6AP2_ENST00000544975.1_Missense_Mutation_p.V245G|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.V243G|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.V289G	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	321					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity	p.V321G(1)		endometrium(1)|large_intestine(1)|lung(2)	4						GCCTTGGCTGTGATTATCACC	0.373000													9	80					0	0	0.004482	0	0
TRIM17	51127	broad.mit.edu	37	1	228596162	228596162	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:228596162G>C	ENST00000366697.2	-	6	2130	c.1174C>G	c.(1174-1176)Cag>Gag	p.Q392E	RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.Q392E|TRIM17_ENST00000295033.3_Missense_Mutation_p.Q392E			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	392	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q392E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TTGGACAGCTGCACCACCCAG	0.612000													12	42					0	0	0.016723	0	0
GPR64	10149	broad.mit.edu	37	X	19031889	19031889	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:19031889T>A	ENST00000354791.3	-	15	1207	c.966A>T	c.(964-966)ccA>ccT	p.P322P	GPR64_ENST00000360279.4_Silent_p.P316P|GPR64_ENST00000379869.3_Silent_p.P338P|GPR64_ENST00000356606.4_Silent_p.P324P|GPR64_ENST00000357544.3_Silent_p.P308P|GPR64_ENST00000379873.2_Silent_p.P338P|GPR64_ENST00000379876.1_Silent_p.P314P|GPR64_ENST00000379878.3_Silent_p.P322P|GPR64_ENST00000357991.3_Silent_p.P335P|GPR64_ENST00000340581.3_Silent_p.P308P			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	338					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.P335P(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TCACAGGAGGTGGGGTGCCGG	0.562000													24	117					0	0	0.024334	0	0
WBP4	11193	broad.mit.edu	37	13	41636824	41636824	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:41636824G>A	ENST00000379487.3	+	2	447	c.47G>A	c.(46-48)tGc>tAc	p.C16Y	WBP4_ENST00000542082.1_Missense_Mutation_p.C16Y	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	16					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding	p.C16Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TGTGATTACTGCAAGTGCTGG	0.368000													6	112					0	0	0.003080	0	0
RANBP3	8498	broad.mit.edu	37	19	5933469	5933469	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:5933469C>T	ENST00000340578.6	-	6	485	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	RANBP3_ENST00000591092.1_Missense_Mutation_p.R75Q|RANBP3_ENST00000541471.1_Missense_Mutation_p.R15Q|RANBP3_ENST00000034275.8_Missense_Mutation_p.R75Q|RANBP3_ENST00000439268.2_Missense_Mutation_p.R143Q|RANBP3_ENST00000591124.1_5'UTR	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	143					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	p.R143Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TGGCTTCAACCGGAAGCCACT	0.622000													4	41					0	0	0.014758	0	0
LIPK	643414	broad.mit.edu	37	10	90497489	90497489	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:90497489G>T	ENST00000404190.1	+	6	767	c.767G>T	c.(766-768)aGc>aTc	p.S256I		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	256					lipid catabolic process	extracellular region	hydrolase activity	p.S256I(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CGTATTTGCAGCAACTTCCTA	0.393000													36	77					4.65686e-17	7.88492e-17	0.017118	1	0
NLRP13	126204	broad.mit.edu	37	19	56424392	56424392	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:56424392T>A	ENST00000588751.1	-	5	815	c.791A>T	c.(790-792)tAt>tTt	p.Y264F	NLRP13_ENST00000342929.3_Missense_Mutation_p.Y264F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	264	NACHT.						ATP binding	p.Y264F(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATAGAAAACATAGGAGAACCT	0.463000													14	92					0	0	0.020292	0	0
SOGA2	23255	broad.mit.edu	37	18	8783929	8783929	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:8783929G>T	ENST00000359865.3	+	6	961	c.819G>T	c.(817-819)gaG>gaT	p.E273D	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.E273D|SOGA2_ENST00000306329.11_Missense_Mutation_p.E633D|SOGA2_ENST00000400050.3_Missense_Mutation_p.E273D	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	624	Pro-rich.							p.E273D(1)									CCTCCACTGAGCTCCGCCGCC	0.642000													46	102					1.51926e-22	2.7558e-22	0.014410	1	0
ZNF761	388561	broad.mit.edu	37	19	53952873	53952873	+	RNA	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:53952873A>T	ENST00000454407.1	+	0	577							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGAGAATTATAGGAACCTGGT	0.473000													12	41					0	0	0.020292	0	0
SH3GL2	6456	broad.mit.edu	37	9	17789527	17789527	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:17789527G>T	ENST00000380607.4	+	6	723	c.603G>T	c.(601-603)atG>atT	p.M201I	SH3GL2_ENST00000537391.1_Missense_Mutation_p.M154I	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	201	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	p.M201I(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGTCAAGCATGTTCAATCTCT	0.373000													27	31					1.77063e-15	2.91288e-15	0.027356	1	0
CASC1	55259	broad.mit.edu	37	12	25347860	25347860	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:25347860G>A	ENST00000354189.5	-	1	172	c.137C>T	c.(136-138)tCt>tTt	p.S46F	CASC1_ENST00000537577.1_Intron|CASC1_ENST00000395987.3_Intron|CASC1_ENST00000395990.2_Intron|CASC1_ENST00000320267.9_Intron|CASC1_ENST00000557684.1_Intron|CASC1_ENST00000545133.1_Intron	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	0	Glu-rich.							p.S46F(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTGCTGAGAAGAGGGCCGACC	0.502000													25	27					0	0	0.018920	0	0
HPD	3242	broad.mit.edu	37	12	122284813	122284813	+	Silent	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:122284813A>T	ENST00000543163.1	-	12	1114	c.669T>A	c.(667-669)gcT>gcA	p.A223A	HPD_ENST00000289004.4_Silent_p.A262A|HPD_ENST00000543869.2_5'UTR	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	262					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	p.A262A(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GCTGGACCCCAGCGCCCCCGT	0.567000													10	23					0	0	0.013537	0	0
PRKCG	5582	broad.mit.edu	37	19	54401818	54401818	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:54401818G>T	ENST00000263431.3	+	11	1499	c.1217G>T	c.(1216-1218)gGg>gTg	p.G406V	PRKCG_ENST00000540413.1_Missense_Mutation_p.G406V|PRKCG_ENST00000542049.1_Missense_Mutation_p.G293V	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	406	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.G406V(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CTGGCGCTGGGGGGCCGGGGT	0.647000													12	14					5.16669e-11	7.47414e-11	0.010729	1	0
CWF19L2	143884	broad.mit.edu	37	11	107219763	107219763	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:107219763G>A	ENST00000282251.5	-	14	2129	c.2102C>T	c.(2101-2103)cCc>cTc	p.P701L	CWF19L2_ENST00000433523.1_Missense_Mutation_p.P701L	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	701							catalytic activity	p.P701L(1)|p.P547L(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CCGTACGTTGGGTAAACATAA	0.363000													5	24					0	0	0.014758	0	0
NALCN	259232	broad.mit.edu	37	13	101890223	101890223	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:101890223A>T	ENST00000251127.6	-	12	1398	c.1317T>A	c.(1315-1317)tgT>tgA	p.C439*	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Nonsense_Mutation_p.C439*	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	439						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.C439*(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAAATCCCAAACACCATATCT	0.328000													39	35					0	0	0.021022	0	0
CNKSR2	22866	broad.mit.edu	37	X	21667055	21667055	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:21667055G>T	ENST00000425654.2	+	20	3189	c.2709G>T	c.(2707-2709)atG>atT	p.M903I	CNKSR2_ENST00000379510.3_Missense_Mutation_p.M933I	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	933					regulation of signal transduction	cytoplasm|membrane	protein binding	p.M933I(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAACCAAGATGGAATACAAGC	0.388000													24	121					2.24059e-21	4.00161e-21	0.006320	1	0
COLEC12	81035	broad.mit.edu	37	18	346494	346494	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:346494G>T	ENST00000400256.3	-	5	1335	c.1128C>A	c.(1126-1128)acC>acA	p.T376T		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	376					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	p.T376T(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTGTGTGTTTGGTAAGGGTAT	0.458000													19	50					2.35188e-11	3.44524e-11	0.006122	1	0
OR5D14	219436	broad.mit.edu	37	11	55563911	55563911	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:55563911C>A	ENST00000335605.1	+	1	880	c.880C>A	c.(880-882)Cta>Ata	p.L294I		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L294I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GATCTACAGCCTAAGGAATAA	0.408000													18	51					1.2644e-06	1.55883e-06	0.010504	1	0
KCNK18	338567	broad.mit.edu	37	10	118957067	118957067	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:118957067G>T	ENST00000334549.1	+	1	68	c.68G>T	c.(67-69)gGc>gTc	p.G23V		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	23						integral to membrane|plasma membrane		p.G23V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTCTTCCCTGGCCTCTGCTTC	0.632000													8	48					0.000157383	0.000176887	0.003080	1	0
ZNF546	339327	broad.mit.edu	37	19	40504258	40504258	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:40504258G>T	ENST00000347077.4	+	3	241	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G9W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCCTCTTCACGGGCCTCCAAA	0.428000													15	40					1.52009e-12	2.32471e-12	0.024245	1	0
OR5B3	441608	broad.mit.edu	37	11	58169980	58169980	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:58169980T>A	ENST00000309403.2	-	1	902	c.903A>T	c.(901-903)aaA>aaT	p.K301N		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K301N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTCAACAACTTTCTTGAATG	0.423000													11	111					0	0	0.013537	0	0
ASAP1	50807	broad.mit.edu	37	8	131130876	131130876	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:131130876C>A	ENST00000357668.1	-	18	1680	c.1653G>T	c.(1651-1653)agG>agT	p.R551S	ASAP1_ENST00000518721.1_Missense_Mutation_p.R551S			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	551	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.R551S(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCCTTGAAAACCTATGATCTA	0.343000													5	51					0.0215528	0.02239	0.021553	1	0
CDH17	1015	broad.mit.edu	37	8	95158253	95158253	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:95158253A>G	ENST00000027335.3	-	15	2194	c.2070T>C	c.(2068-2070)gcT>gcC	p.A690A	CDH17_ENST00000441892.2_Silent_p.A476A|CDH17_ENST00000450165.2_Silent_p.A690A	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	690	Cadherin 7.					integral to membrane	calcium ion binding	p.A690A(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATCATCAGTAGCCTCGAAAA	0.483000													12	53					0	0	0.013537	0	0
VAV3	10451	broad.mit.edu	37	1	108303503	108303503	+	Splice_Site	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:108303503T>A	ENST00000370056.4	-	10	1196		c.e10-2		VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.?(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GGAACATTCCTAATGAAATGT	0.363000													5	19					0	0	0.014758	0	0
CLSTN2	64084	broad.mit.edu	37	3	140265370	140265370	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:140265370C>A	ENST00000458420.3	+	10	1711	c.1521C>A	c.(1519-1521)acC>acA	p.T507T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	507					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.T507T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAGAAGTCACCAAACCACAGT	0.522000										HNSCC(16;0.037)			17	42					4.96729e-08	6.4279e-08	0.008871	1	0
SORBS2	8470	broad.mit.edu	37	4	186541230	186541230	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:186541230G>A	ENST00000431808.1	-	15	3142	c.2579C>T	c.(2578-2580)aCt>aTt	p.T860I	SORBS2_ENST00000393528.3_Missense_Mutation_p.T426I|SORBS2_ENST00000448662.2_Missense_Mutation_p.T421I|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000319471.9_Missense_Mutation_p.T491I|SORBS2_ENST00000284776.7_Missense_Mutation_p.T860I|SORBS2_ENST00000437304.2_Missense_Mutation_p.T584I|SORBS2_ENST00000449407.2_Missense_Mutation_p.T404I|SORBS2_ENST00000355634.5_Missense_Mutation_p.T960I|SORBS2_ENST00000418609.1_Missense_Mutation_p.T764I			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	860						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.T426I(1)|p.T421I(1)|p.T860I(1)|p.T584I(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TTTTTCTGGAGTTCCTCTTCT	0.438000													7	324					0	0	0.003080	0	0
DENND3	22898	broad.mit.edu	37	8	142176321	142176321	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:142176321C>T	ENST00000519811.1	+	12	1656	c.1586C>T	c.(1585-1587)cCg>cTg	p.P529L	DENND3_ENST00000262585.2_Missense_Mutation_p.P449L|DENND3_ENST00000424248.1_Missense_Mutation_p.P397L			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	449								p.P449L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAAGGAGACCGACCGTTGAG	0.483000													37	232					0	0	0.023175	0	0
SLC27A2	11001	broad.mit.edu	37	15	50515330	50515330	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:50515330G>T	ENST00000267842.5	+	5	1373	c.1141G>T	c.(1141-1143)Gtt>Ttt	p.V381F	SLC27A2_ENST00000544960.1_Missense_Mutation_p.V146F|SLC27A2_ENST00000380902.4_Missense_Mutation_p.V328F	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	381					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	p.V381F(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGTTGGTGCTGTTGGAAGAGT	0.373000													4	38					2.56e-06	3.11925e-06	0.009096	1	0
KRT75	9119	broad.mit.edu	37	12	52818493	52818493	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:52818493G>T	ENST00000252245.5	-	9	1684	c.1464C>A	c.(1462-1464)agC>agA	p.S488R	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	488	Tail.					keratin filament	structural molecule activity	p.S488R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CACCTCCAATGCTGCTGCCGC	0.602000													51	39					4.78724e-31	9.21235e-31	0.014410	1	0
CNTN3	5067	broad.mit.edu	37	3	74413689	74413689	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:74413689G>T	ENST00000263665.6	-	9	1169	c.1142C>A	c.(1141-1143)tCt>tAt	p.S381Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	381	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.S381Y(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GAACATGCCAGAATCAGTCAC	0.368000													17	54					8.28177e-16	1.37109e-15	0.007413	1	0
TTC7B	145567	broad.mit.edu	37	14	91007748	91007748	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:91007748G>T	ENST00000357056.2	-	21	2668	c.2547C>A	c.(2545-2547)ccC>ccA	p.P849P	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Silent_p.P832P			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	832							binding	p.P832P(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				AGGGCACGGCGGGGCTGCTGG	0.697000													8	7					3.86212e-05	4.45596e-05	0.008291	1	0
KIF26B	55083	broad.mit.edu	37	1	245848767	245848767	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:245848767A>T	ENST00000366518.4	+	9	1443	c.1339A>T	c.(1339-1341)Acc>Tcc	p.T447S	KIF26B_ENST00000407071.2_Missense_Mutation_p.T828S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	828	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T828S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCGCAGGCCCACCCAGCTGAG	0.642000													10	15					0	0	0.008291	0	0
RANBP2	5903	broad.mit.edu	37	2	109380142	109380142	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:109380142A>G	ENST00000283195.6	+	20	3273	c.3147A>G	c.(3145-3147)ccA>ccG	p.P1049P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1049					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.P1049P(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTCCTCACCACAGGTTGTGA	0.443000													17	128					0	0	0.008871	0	0
TRPC6	7225	broad.mit.edu	37	11	101375480	101375480	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:101375480C>A	ENST00000344327.3	-	2	644	c.220G>T	c.(220-222)Gag>Tag	p.E74*	TRPC6_ENST00000532133.1_Nonsense_Mutation_p.E74*|TRPC6_ENST00000360497.4_Nonsense_Mutation_p.E74*|TRPC6_ENST00000526713.1_5'UTR|TRPC6_ENST00000348423.4_Nonsense_Mutation_p.E74*	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	74					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.E74*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTCCCCTTCTCACGGAGAACT	0.463000													62	46					2.40041e-21	4.27971e-21	0.014410	1	0
DLK1	8788	broad.mit.edu	37	14	101201093	101201093	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:101201093C>A	ENST00000341267.4	+	5	1254	c.1012C>A	c.(1012-1014)Cgc>Agc	p.R338S	DLK1_ENST00000331224.6_Missense_Mutation_p.R265S	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	338					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.R338S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GTCCAACCTGCGCTACAACCA	0.572000													17	47					5.3912e-06	6.47814e-06	0.006122	1	0
MYF6	4618	broad.mit.edu	37	12	81101537	81101537	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:81101537C>A	ENST00000228641.3	+	1	261	c.39C>A	c.(37-39)ttC>ttA	p.F13L		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	13					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.F13L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CCTATTTCTTCTACTTGGATG	0.493000													9	88					3.86212e-05	4.45596e-05	0.008291	1	0
SNRNP70	6625	broad.mit.edu	37	19	49610944	49610944	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:49610944G>T	ENST00000221448.5	+	9	836	c.640G>T	c.(640-642)Gat>Tat	p.D214Y	SNRNP70_ENST00000598441.1_Missense_Mutation_p.D214Y	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	214					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.D214Y(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						TTCAGGCCGCGATGACACCTC	0.657000													21	46					1.96292e-10	2.77792e-10	0.010504	1	0
DTNA	1837	broad.mit.edu	37	18	32407638	32407638	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:32407638G>T	ENST00000283365.9	+	12	1443	c.1092G>T	c.(1090-1092)agG>agT	p.R364S	DTNA_ENST00000399121.5_Missense_Mutation_p.R361S|DTNA_ENST00000348997.5_Missense_Mutation_p.R361S|DTNA_ENST00000269191.6_Missense_Mutation_p.R364S|DTNA_ENST00000315456.6_Missense_Mutation_p.R364S|DTNA_ENST00000597599.1_Missense_Mutation_p.R361S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000591182.1_Missense_Mutation_p.R43S|DTNA_ENST00000269190.7_Missense_Mutation_p.R365S|DTNA_ENST00000598142.1_Missense_Mutation_p.R364S|DTNA_ENST00000598334.1_Missense_Mutation_p.R361S|DTNA_ENST00000597674.1_Missense_Mutation_p.R43S|DTNA_ENST00000399113.3_Missense_Mutation_p.R364S|DTNA_ENST00000598774.1_Missense_Mutation_p.R364S|DTNA_ENST00000444659.1_Missense_Mutation_p.R364S|DTNA_ENST00000556414.3_Missense_Mutation_p.R43S|DTNA_ENST00000599844.1_Missense_Mutation_p.R43S|DTNA_ENST00000269192.7_Missense_Mutation_p.R43S|DTNA_ENST00000601125.1_Missense_Mutation_p.R43S|DTNA_ENST00000554864.3_Missense_Mutation_p.R361S|DTNA_ENST00000399097.3_Missense_Mutation_p.R43S|DTNA_ENST00000595022.1_Missense_Mutation_p.R361S	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	364					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.R361S(2)|p.R364S(2)|p.R43S(1)|p.R365S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TTATTACCAGGAGGTAAGTTC	0.438000													14	63					0.00185496	0.00202165	0.016723	1	0
MYO7B	4648	broad.mit.edu	37	2	128367543	128367543	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:128367543G>T	ENST00000389524.4	+	24	3197	c.3144G>T	c.(3142-3144)ctG>ctT	p.L1048L	MYO7B_ENST00000428314.1_Silent_p.L1048L|MYO7B_ENST00000409816.2_Silent_p.L1048L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1048	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.L1048L(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ATGACACGCTGGGCAGGGAGC	0.627000													7	9					1.06961e-07	1.36716e-07	0.003080	1	0
OTOP2	92736	broad.mit.edu	37	17	72921751	72921751	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:72921751G>T	ENST00000331427.4	+	3	506	c.414G>T	c.(412-414)ctG>ctT	p.L138L	OTOP2_ENST00000580223.1_Silent_p.L138L	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	138						integral to membrane		p.L138L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TCAAGATCCTGCACCCCCTCA	0.537000													40	54					6.07928e-31	1.16771e-30	0.009718	1	0
CTC1	80169	broad.mit.edu	37	17	8135134	8135134	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:8135134C>A	ENST00000315684.8	-	14	2393		c.e14-1			NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1						positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	p.?(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGAGGTGAACCTGGGAGGATG	0.572000													4	47					0.00909568	0.00959231	0.009096	1	0
MAGEC3	139081	broad.mit.edu	37	X	140985492	140985492	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:140985492C>G	ENST00000298296.1	+	8	1806	c.1806C>G	c.(1804-1806)tcC>tcG	p.S602S	MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000544766.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	602	MAGE 2.							p.S602S(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTCCATCCTGGTACATGG	0.478000													28	108					0	0	0.007291	0	0
CDH7	1005	broad.mit.edu	37	18	63526277	63526277	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:63526277G>A	ENST00000536984.2	+	9	2183	c.1489G>A	c.(1489-1491)Ggg>Agg	p.G497R	CDH7_ENST00000323011.3_Missense_Mutation_p.G497R|CDH7_ENST00000397968.2_Missense_Mutation_p.G497R			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	497	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G497R(2)|p.G497W(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGCCCAGCCGGGGCAGGTAAG	0.428000													11	33					0	0	0.013537	0	0
LIFR	3977	broad.mit.edu	37	5	38493779	38493779	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:38493779G>T	ENST00000263409.4	-	14	2156	c.1994C>A	c.(1993-1995)tCt>tAt	p.S665Y	LIFR_ENST00000453190.2_Missense_Mutation_p.S665Y|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	665	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.S665Y(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTCCGACCGAGACGAGTTACA	0.438000			T	PLAG1	salivary adenoma								36	169					3.6622e-26	6.82085e-26	0.017118	1	0
ALMS1	7840	broad.mit.edu	37	2	73678725	73678725	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:73678725G>T	ENST00000264448.6	+	8	5179	c.5068G>T	c.(5068-5070)Gtt>Ttt	p.V1690F	ALMS1_ENST00000409009.1_Missense_Mutation_p.V1648F|ALMS1_ENST00000377715.1_Missense_Mutation_p.V1690F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1690	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.V1690F(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGCTCTGAAAGTTCCACCTGT	0.438000													18	114					1.33834e-09	1.82469e-09	0.007413	1	0
ZFP14	57677	broad.mit.edu	37	19	36832249	36832249	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:36832249G>T	ENST00000270001.7	-	5	594	c.479C>A	c.(478-480)aCt>aAt	p.T160N		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T160N(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CTGATACTCAGTAAGAAAATT	0.388000													22	222					1.22574e-08	1.62034e-08	0.014323	1	0
LDHAL6A	160287	broad.mit.edu	37	11	18485532	18485532	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:18485532G>T	ENST00000280706.2	+	2	948	c.151G>T	c.(151-153)Gtg>Ttg	p.V51L	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.V51L	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	51					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.V51L(1)		large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	ACTTGTCCTTGTGGATGTTGA	0.378000													23	73					2.79863e-10	3.94456e-10	0.024334	1	0
PPP2R3B	28227	broad.mit.edu	37	X	347161	347161	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:347161G>C	ENST00000390665.3	-	1	284	c.266C>G	c.(265-267)tCc>tGc	p.S89C		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	89					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	p.S89C(1)		endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGGGCTGGAGGCGGCGCC	0.731000													8	12					0	0	0.006214	0	0
GATS	352954	broad.mit.edu	37	7	99821629	99821629	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:99821629C>A	ENST00000436886.2	-	3	535	c.287G>T	c.(286-288)gGt>gTt	p.G96V	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN		96								p.G96V(1)		endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAGCTGCCACCGCCGGACAC	0.617000													151	46					1.73214e-63	3.44119e-63	0.014410	1	0
RNF2	6045	broad.mit.edu	37	1	185060780	185060780	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:185060780A>T	ENST00000367510.3	+	3	445	c.157A>T	c.(157-159)Att>Ttt	p.I53F	RNF2_ENST00000367509.4_Missense_Mutation_p.I53F	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	53	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	p.I53F(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		AATGTGCCCAATTTGTTTGGA	0.383000													68	118					0	0	0.014410	0	0
MDN1	23195	broad.mit.edu	37	6	90382348	90382348	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:90382348G>C	ENST00000369393.3	-	81	13663	c.13548C>G	c.(13546-13548)ctC>ctG	p.L4516L	MDN1_ENST00000428876.1_Silent_p.L4516L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4516					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.L4516L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGATGGCACAGAGGATGGCTC	0.418000													16	74					0	0	0.028581	0	0
ATP10D	57205	broad.mit.edu	37	4	47559954	47559954	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:47559954G>C	ENST00000273859.3	+	12	2367	c.2098G>C	c.(2098-2100)Ggt>Cgt	p.G700R	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	700					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G700R(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAAACAACACGGTGATGCAGG	0.582000													29	33					0	0	0.006320	0	0
ADCK1	57143	broad.mit.edu	37	14	78397954	78397954	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:78397954A>G	ENST00000238561.5	+	10	1399	c.1300A>G	c.(1300-1302)Acc>Gcc	p.T434A	ADCK1_ENST00000341211.5_Missense_Mutation_p.T366A|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	441	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity	p.T434A(1)|p.T366A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CATCTTGAAGACCAACGACCT	0.602000													9	22					0	0	0.004482	0	0
DNAH8	1769	broad.mit.edu	37	6	38835952	38835952	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:38835952G>A	ENST00000359357.3	+	46	6411	c.6157G>A	c.(6157-6159)Gat>Aat	p.D2053N	DNAH8_ENST00000449981.2_Missense_Mutation_p.D2270N|DNAH8_ENST00000441566.1_Missense_Mutation_p.D2017N					dynein, axonemal, heavy chain 8									p.D2053N(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGACTAAGAGATATGAACCT	0.363000													35	21					0	0	0.025465	0	0
CTNND2	1501	broad.mit.edu	37	5	11384964	11384964	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:11384964G>T	ENST00000304623.8	-	7	1179	c.990C>A	c.(988-990)cgC>cgA	p.R330R	CTNND2_ENST00000359640.2_Silent_p.R330R|CTNND2_ENST00000511377.1_Silent_p.R239R|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	330					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.R330R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCGAGGTCACGCGGATCGGGG	0.687000													7	8					5.18039e-06	6.2392e-06	0.003080	1	0
C3orf22	152065	broad.mit.edu	37	3	126270897	126270897	+	Missense_Mutation	SNP	G	G	T	rs145199781	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:126270897G>T	ENST00000318225.2	-	3	536	c.158C>A	c.(157-159)aCg>aAg	p.T53K		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	53								p.T53K(1)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CAGCTGCACCGTGTTCGAGTC	0.622000													15	83					4.93089e-13	7.64178e-13	0.020292	1	0
FNDC3B	64778	broad.mit.edu	37	3	172065095	172065095	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:172065095A>C	ENST00000336824.4	+	21	2557	c.2458A>C	c.(2458-2460)Acc>Ccc	p.T820P	FNDC3B_ENST00000416957.1_Missense_Mutation_p.T820P|FNDC3B_ENST00000415807.2_Missense_Mutation_p.T820P	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	820	Fibronectin type-III 6.					endoplasmic reticulum|integral to membrane		p.T820P(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGGGACAGACACCCGTTTTGA	0.443000													32	78					0	0	0.012213	0	0
SLC34A3	142680	broad.mit.edu	37	9	140126579	140126579	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:140126579C>A	ENST00000538474.1	+	3	365	c.141C>A	c.(139-141)ctC>ctA	p.L47L	SLC34A3_ENST00000361134.2_Silent_p.L47L	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	47					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.L47L(1)		kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCTGGACCCTCCCTCAGCTGA	0.627000													40	54					4.67007e-22	8.39807e-22	0.008740	1	0
OR5M8	219484	broad.mit.edu	37	11	56258455	56258455	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:56258455T>A	ENST00000327216.2	-	1	416	c.392A>T	c.(391-393)tAt>tTt	p.Y131F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y131F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TCTGCTGCCATAAAGCAGAGG	0.517000													12	55					0	0	0.016723	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806457	33806457	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:33806457C>G	ENST00000260908.7	-	2	889	c.772G>C	c.(772-774)Ggt>Cgt	p.G258R	SLFN12L_ENST00000449046.1_Missense_Mutation_p.G289R|SLFN12L_ENST00000361112.4_Missense_Mutation_p.G287R	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	290						integral to membrane	ATP binding	p.G289R(2)|p.G287R(1)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TCATTTAGACCAACGAATAAA	0.328000													10	42					0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113326281	113326281	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:113326281C>A	ENST00000297405.5	-	49	7794	c.7549_splice	c.e49-1	p.G2517_splice	CSMD3_ENST00000352409.3_Splice_Site_p.G2447_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G2477_splice|CSMD3_ENST00000455883.2_Splice_Site_p.G2413_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2517	CUB 14.					integral to membrane|plasma membrane		p.G2517V(1)|p.G2477V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATATTTGGTCCTTTGGGAAG	0.284000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	15					0.000673444	0.000740931	0.008291	1	0
BCORL1	63035	broad.mit.edu	37	X	129148882	129148882	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:129148882A>T	ENST00000540052.1	+	3	2178	c.2134A>T	c.(2134-2136)Acc>Tcc	p.T712S	BCORL1_ENST00000218147.7_Missense_Mutation_p.T712S|BCORL1_ENST00000303743.5_Missense_Mutation_p.T712S|BCORL1_ENST00000359304.2_Missense_Mutation_p.T712S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	712					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T712S(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACTGATCAGCACCATTCCTGG	0.602000													9	47					0	0	0.006214	0	0
DCT	1638	broad.mit.edu	37	13	95095718	95095718	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:95095718A>G	ENST00000377028.5	-	7	1766	c.1353T>C	c.(1351-1353)ctT>ctC	p.L451L	DCT_ENST00000446125.1_Silent_p.L484L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	451					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.L484L(1)|p.L451L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGCTGTAGCCAAGTTGGTCTG	0.433000													33	21					0	0	0.021022	0	0
BMX	660	broad.mit.edu	37	X	15554498	15554498	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:15554498C>A	ENST00000357607.2	+	13	1358	c.1170C>A	c.(1168-1170)caC>caA	p.H390Q	BMX_ENST00000342014.6_Missense_Mutation_p.H390Q|BMX_ENST00000348343.6_Missense_Mutation_p.H390Q			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	390	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	p.H390Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GGCTCCGCCACCCTGTGTCAA	0.428000													27	111					2.08457e-15	3.41856e-15	0.010818	1	0
RTN3	10313	broad.mit.edu	37	11	63487648	63487648	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:63487648G>T	ENST00000377819.5	+	3	1828	c.1674G>T	c.(1672-1674)ttG>ttT	p.L558F	RTN3_ENST00000540798.1_Missense_Mutation_p.L446F|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.L539F|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	558					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		p.L539_V540>FF(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTGAAGAATTGGTCAGTGACT	0.408000													33	27					1.836e-18	3.1757e-18	0.017118	1	0
SLC9A4	389015	broad.mit.edu	37	2	103090302	103090302	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:103090302T>A	ENST00000295269.4	+	1	541	c.84T>A	c.(82-84)tcT>tcA	p.S28S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	28					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.S28S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AAGCATCTTCTGATTTGAATG	0.463000													46	152					0	0	0.014410	0	0
DSG2	1829	broad.mit.edu	37	18	29111028	29111028	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:29111028A>T	ENST00000261590.8	+	9	1302	c.1093A>T	c.(1093-1095)Agg>Tgg	p.R365W		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	365	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.R365W(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CAAGTCGATTAGGAGTAAATA	0.363000													22	48					0	0	0.010504	0	0
ZNF583	147949	broad.mit.edu	37	19	56934258	56934258	+	Splice_Site	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:56934258A>T	ENST00000333201.9	+	5	442		c.e5-1		ZNF583_ENST00000291598.7_Splice_Site	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GATATCTTTTAGATTGGGAGT	0.284000													9	32					0	0	0.004482	0	0
BAZ2B	29994	broad.mit.edu	37	2	160194283	160194283	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:160194283C>A	ENST00000392783.2	-	32	5950	c.5454_splice	c.e32-1	p.G1819_splice	BAZ2B_ENST00000392782.1_Splice_Site_p.G1783_splice|BAZ2B_ENST00000343439.5_Splice_Site_p.G1719_splice|BAZ2B_ENST00000355831.2_Splice_Site_p.G1785_splice	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.G1819C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CACATCCAACCCTATATATCA	0.368000													16	52					0.000422831	0.000469163	0.028581	1	0
GABRA6	2559	broad.mit.edu	37	5	161117360	161117360	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:161117360G>T	ENST00000523217.1	+	7	1038		c.e7+1		GABRA6_ENST00000274545.5_Splice_Site	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTGTTTTTGGTATATGTCAC	0.373000										TCGA Ovarian(5;0.080)			15	65					2.31682e-05	2.73045e-05	0.024245	1	0
DHX29	54505	broad.mit.edu	37	5	54567931	54567931	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:54567931T>A	ENST00000251636.5	-	18	2996	c.2848A>T	c.(2848-2850)Aga>Tga	p.R950*	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	950	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	p.R950*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCTTTTGTTCTTCCAGTATCA	0.308000													8	5					0	0	0.003080	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063041	48063041	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:48063041C>G	ENST00000316364.5	+	19	2720	c.2281C>G	c.(2281-2283)Cat>Gat	p.H761D	SEMA6D_ENST00000536845.2_Missense_Mutation_p.H761D|SEMA6D_ENST00000389428.3_Missense_Mutation_p.H686D|SEMA6D_ENST00000389432.2_Missense_Mutation_p.H718D|SEMA6D_ENST00000537942.1_Missense_Mutation_p.H699D|SEMA6D_ENST00000354744.4_Missense_Mutation_p.H705D|SEMA6D_ENST00000389433.2_Missense_Mutation_p.H742D|SEMA6D_ENST00000358066.4_Missense_Mutation_p.H699D|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.H699D|SEMA6D_ENST00000558816.1_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	761					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.H761D(1)|p.H699D(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGTAATGGACCATCGAGGGCA	0.478000													12	32					0	0	0.016723	0	0
MXRA5	25878	broad.mit.edu	37	X	3228004	3228004	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:3228004G>T	ENST00000217939.6	-	7	8394	c.8240C>A	c.(8239-8241)cCc>cAc	p.P2747H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2747	Ig-like C2-type 12.					extracellular region		p.P2747H(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTGTTCCCGGGCCGGGTGTA	0.597000													24	47					7.92952e-12	1.17479e-11	0.021523	1	0
ZNF536	9745	broad.mit.edu	37	19	30935025	30935025	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:30935025G>T	ENST00000355537.3	+	2	703	c.556G>T	c.(556-558)Ggc>Tgc	p.G186C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G186C(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGCAACCTGGGCAAGGGGCG	0.667000													12	17					7.03913e-09	9.36455e-09	0.013537	1	0
NLRP3	114548	broad.mit.edu	37	1	247588321	247588321	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:247588321C>A	ENST00000366497.2	+	4	2356	c.1576C>A	c.(1576-1578)Cag>Aag	p.Q526K	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.Q526K|NLRP3_ENST00000336119.3_Missense_Mutation_p.Q526K|NLRP3_ENST00000366496.2_Missense_Mutation_p.Q526K|NLRP3_ENST00000391828.3_Missense_Mutation_p.Q526K|NLRP3_ENST00000391827.2_Missense_Mutation_p.Q526K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	526	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.Q526K(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CATGACTTTCCAGGAGTTCTT	0.517000													13	21					0.00316338	0.00339794	0.024245	1	0
TTN	7273	broad.mit.edu	37	2	179610535	179610535	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179610535G>T	ENST00000360870.5	-	46	16814	c.16592C>A	c.(16591-16593)gCa>gAa	p.A5531E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9001	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAAAATATGCTGCTGTACC	0.428000													17	88					4.7546e-09	6.39053e-09	0.028581	1	0
MME	4311	broad.mit.edu	37	3	154802043	154802043	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:154802043C>A	ENST00000460393.1	+	2	207	c.87C>A	c.(85-87)atC>atA	p.I29I	MME_ENST00000382989.3_Silent_p.I29I|MME_ENST00000492661.1_Silent_p.I29I|MME_ENST00000360490.2_Silent_p.I29I|MME_ENST00000493237.1_Silent_p.I29I|MME_ENST00000462745.1_Silent_p.I29I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	29					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.S30G(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CACTGGAGATCAGCCTCTCGG	0.483000													43	115					7.34454e-26	1.36548e-25	0.014410	1	0
PARP8	79668	broad.mit.edu	37	5	50111265	50111265	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:50111265G>T	ENST00000281631.5	+	15	1733		c.e15-1		PARP8_ENST00000505554.1_Splice_Site|PARP8_ENST00000514342.2_Splice_Site|PARP8_ENST00000514067.2_Splice_Site|PARP8_ENST00000505697.2_Splice_Site|PARP8_ENST00000503750.2_Splice_Site|PARP8_ENST00000511363.2_Splice_Site	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8							intracellular	NAD+ ADP-ribosyltransferase activity	p.?(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTCTTTTGTAGCCTACCGTAT	0.353000													12	21					4.14922e-12	6.21786e-12	0.028581	1	0
OR14A16	284532	broad.mit.edu	37	1	247978138	247978138	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:247978138C>T	ENST00000357627.1	-	1	893	c.894G>A	c.(892-894)ctG>ctA	p.L298L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L298L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TCAACATCCCCAGAGCCACCT	0.358000													23	43					0	0	0.027356	0	0
DNAH1	25981	broad.mit.edu	37	3	52432999	52432999	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:52432999T>A	ENST00000420323.2	+	76	12484	c.12223T>A	c.(12223-12225)Tgg>Agg	p.W4075R		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4140					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.W4075R(1)|p.W4139R(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTGAGCTCTGGAGTGCCAA	0.562000													19	33					0	0	0.006122	0	0
FPGS	2356	broad.mit.edu	37	9	130569352	130569352	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:130569352C>A	ENST00000373245.1	+	5	537	c.487C>A	c.(487-489)Ctg>Atg	p.L163M	FPGS_ENST00000373247.2_Missense_Mutation_p.L163M|FPGS_ENST00000393706.2_Missense_Mutation_p.L163M|FPGS_ENST00000373225.3_Missense_Mutation_p.L113M|FPGS_ENST00000460181.1_3'UTR			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	163					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	p.L163M(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	CTACCACCGGCTGGAGGAGAC	0.637000													8	56					0.00307968	0.00331145	0.003080	1	0
STAB2	55576	broad.mit.edu	37	12	104126897	104126897	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:104126897C>A	ENST00000388887.2	+	51	5601	c.5397C>A	c.(5395-5397)ttC>ttA	p.F1799L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1799	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.F1799L(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACTTCCTGTTCAACCAAGACA	0.478000													89	101					6.01484e-32	1.16175e-31	0.014410	1	0
TTN	7273	broad.mit.edu	37	2	179413591	179413591	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179413591G>C	ENST00000589042.1	-	339	92986	c.92762C>G	c.(92761-92763)aCa>aGa	p.T30921R	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T29280R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T28353R|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T21981R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T22048R|TTN_ENST00000460472.2_Missense_Mutation_p.T21856R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29280	Fibronectin type-III 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T21981R(1)|p.T28351R(1)|p.T21856R(1)|p.T28353R(1)|p.T22048R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAGGAGCTGTTAACCGGTC	0.458000													15	59					0	0	0.024245	0	0
ETV6	2120	broad.mit.edu	37	12	12037475	12037475	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:12037475G>T	ENST00000396373.4	+	6	1380	c.1106G>T	c.(1105-1107)cGg>cTg	p.R369L		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	369						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R369L(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAAATATTCCGGATAGTGGAT	0.458000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								74	36					9.07738e-34	1.76307e-33	0.014410	1	0
OR2W1	26692	broad.mit.edu	37	6	29012594	29012594	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:29012594T>A	ENST00000377175.1	-	1	423	c.359A>T	c.(358-360)tAt>tTt	p.Y120F		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y120F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AAAACGATCATAGGACATAAC	0.403000													17	24					0	0	0.028581	0	0
CIT	11113	broad.mit.edu	37	12	120159163	120159163	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:120159163A>G	ENST00000392521.2	-	29	3738	c.3683T>C	c.(3682-3684)cTa>cCa	p.L1228P	CIT_ENST00000261833.7_Missense_Mutation_p.L1186P|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1186	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.L1229P(1)|p.L1186P(1)|p.L1228P(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGTCTTCAGTAGATCAGCCCG	0.488000													19	86					0	0	0.010504	0	0
OR5L2	26338	broad.mit.edu	37	11	55594726	55594726	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:55594726A>T	ENST00000378397.1	+	1	32	c.32A>T	c.(31-33)gAg>gTg	p.E11V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E11V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ACTGTGGCTGAGTTCATTCTC	0.428000										HNSCC(27;0.073)			88	132					0	0	0.014410	0	0
IGHG1	3500	broad.mit.edu	37	14	106208133	106208133	+	RNA	SNP	C	C	G	rs1803800		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:106208133C>G	ENST00000390548.2	-	0	670																											CGGGGCTGCCCTGTAGGGACA	0.642000													6	146					0	0	0.021553	0	0
KIAA1614	57710	broad.mit.edu	37	1	180905361	180905361	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:180905361C>T	ENST00000367588.4	+	5	2371	c.2316C>T	c.(2314-2316)tcC>tcT	p.S772S	KIAA1614_ENST00000367587.1_Silent_p.S393S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	772								p.S772S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCACGAGTCCCTGGAAATTG	0.612000													14	26					0	0	0.024245	0	0
NCAN	1463	broad.mit.edu	37	19	19339042	19339042	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:19339042G>T	ENST00000252575.5	+	8	2656	c.2613G>T	c.(2611-2613)acG>acT	p.T871T	NCAN_ENST00000538881.1_Silent_p.T322T	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	871					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.T871T(1)|p.T885T(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCATTGTGACGCCCCTCACGA	0.582000													24	29					7.87624e-14	1.25419e-13	0.016522	1	0
ACIN1	22985	broad.mit.edu	37	14	23530581	23530581	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:23530581C>A	ENST00000262710.1	-	17	3851	c.3524G>T	c.(3523-3525)cGt>cTt	p.R1175L	ACIN1_ENST00000357481.2_Missense_Mutation_p.R417L|ACIN1_ENST00000397341.3_Missense_Mutation_p.R417L|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1117L|ACIN1_ENST00000557515.1_Missense_Mutation_p.R416L|ACIN1_ENST00000338631.6_Missense_Mutation_p.R448L|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1162L|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1135L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1175	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.R448L(1)|p.R1175L(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGATCGGGAACGGGGCCCTTC	0.577000													23	78					6.44725e-10	9.00199e-10	0.014323	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110450210	110450210	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:110450210G>A	ENST00000260283.4	-	16	3744	c.3460C>T	c.(3460-3462)Ctg>Ttg	p.L1154L	ARHGAP20_ENST00000528829.1_Silent_p.L1118L|ARHGAP20_ENST00000527598.1_Silent_p.L1118L|ARHGAP20_ENST00000524756.1_Silent_p.L1131L|ARHGAP20_ENST00000357139.3_Silent_p.L1128L|ARHGAP20_ENST00000533353.1_Silent_p.L1128L|ARHGAP20_ENST00000529591.1_Silent_p.L697L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1154					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.L1154L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCCAAGGCAGAGAACCAGAA	0.527000													35	42					0	0	0.012213	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627176	43627176	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:43627176G>T	ENST00000332857.6	-	4	1539	c.1511C>A	c.(1510-1512)cCa>cAa	p.P504Q		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.P504Q(1)									AGATAGGACTGGGAAAGAAGA	0.532000													136	217					1.2273e-65	2.44289e-65	0.014410	1	0
GNAI3	2773	broad.mit.edu	37	1	110134687	110134687	+	Silent	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:110134687A>T	ENST00000369851.4	+	8	1007	c.897A>T	c.(895-897)gcA>gcT	p.A299A		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	299					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.A299A(1)		NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		ATGAAGAGGCAGCTGCCTATA	0.418000													11	44					0	0	0.008291	0	0
LGR5	8549	broad.mit.edu	37	12	71966695	71966695	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:71966695G>T	ENST00000266674.5	+	13	1513	c.1202G>T	c.(1201-1203)cGa>cTa	p.R401L	LGR5_ENST00000536515.1_Missense_Mutation_p.R329L|LGR5_ENST00000540815.2_Missense_Mutation_p.R377L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	401						integral to plasma membrane	protein-hormone receptor activity	p.R401L(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTTAGCCTCCGATCGCTGTGA	0.423000													23	73					7.07758e-08	9.12474e-08	0.024334	1	0
CNTN3	5067	broad.mit.edu	37	3	74334493	74334493	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:74334493A>G	ENST00000263665.6	-	19	2694	c.2667T>C	c.(2665-2667)ccT>ccC	p.P889P		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	889	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.P889P(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGGCGCTAAAAGGCCCAGCGC	0.473000													38	121					0	0	0.007835	0	0
OCA2	4948	broad.mit.edu	37	15	28000591	28000591	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:28000591G>T	ENST00000354638.3	-	24	2615	c.2460C>A	c.(2458-2460)tcC>tcA	p.S820S	OCA2_ENST00000353809.5_Silent_p.S796S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	820					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.S820S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAACAGTGCAGGACACAACCA	0.433000									Oculocutaneous Albinism				6	25					5.18039e-06	6.2392e-06	0.003080	1	0
RFWD2	64326	broad.mit.edu	37	1	175956124	175956124	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:175956124T>A	ENST00000367669.3	-	18	2602	c.2088A>T	c.(2086-2088)acA>acT	p.T696T	RFWD2_ENST00000308769.8_Silent_p.T672T	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	696					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T696T(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAAATTCATTTGTATCATCTT	0.363000													36	65					0	0	0.008740	0	0
CHRM2	1129	broad.mit.edu	37	7	136700192	136700192	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:136700192G>T	ENST00000445907.2	+	3	1108	c.580G>T	c.(580-582)Gcc>Tcc	p.A194S	CHRM2_ENST00000320658.5_Missense_Mutation_p.A194S|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A194S|CHRM2_ENST00000397608.3_Missense_Mutation_p.A194S|CHRM2_ENST00000453373.1_Missense_Mutation_p.A194S|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A194S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	194					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.A194S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GGCTATTGCAGCCTTCTATTT	0.478000													27	38					2.08973e-25	3.87138e-25	0.027356	1	0
THADA	63892	broad.mit.edu	37	2	43797577	43797577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:43797577C>A	ENST00000403856.1	-	15	2284	c.2137G>T	c.(2137-2139)Gag>Tag	p.E713*	THADA_ENST00000402360.2_Nonsense_Mutation_p.E713*|THADA_ENST00000405975.2_Nonsense_Mutation_p.E713*|THADA_ENST00000415080.2_Nonsense_Mutation_p.E423*|THADA_ENST00000404790.1_Nonsense_Mutation_p.E713*|THADA_ENST00000330266.7_Nonsense_Mutation_p.E423*|THADA_ENST00000405006.4_Nonsense_Mutation_p.E713*			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	713							binding	p.E713*(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AACTCATTCTCTGGTTCACGT	0.328000													27	33					1.42536e-11	2.09387e-11	0.024334	1	0
ERBB4	2066	broad.mit.edu	37	2	212248511	212248511	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:212248511G>A	ENST00000342788.4	-	28	4066	c.3756C>T	c.(3754-3756)acC>acT	p.T1252T	ERBB4_ENST00000436443.1_Silent_p.T1236T|ERBB4_ENST00000402597.1_Silent_p.T1242T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1252					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.T1252T(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGTGCTGAAGGGTGCTCCGAG	0.493000										TSP Lung(8;0.080)			21	63					0	0	0.018920	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20302256	20302256	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:20302256A>T	ENST00000375111.3	-	6	644	c.373T>A	c.(373-375)Tac>Aac	p.Y125N	PLA2G2A_ENST00000400520.3_Missense_Mutation_p.Y125N|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	125					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	p.Y125N(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTTATTGTAGGTCGTCTTG	0.458000													11	49					0	0	0.013537	0	0
ZNF845	91664	broad.mit.edu	37	19	53855101	53855101	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:53855101C>G	ENST00000458035.1	+	4	1290	c.1173C>G	c.(1171-1173)acC>acG	p.T391T	ZNF845_ENST00000595091.1_Silent_p.T391T	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T391T(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GCAGCAGGACCTTTAGTCGGA	0.393000													42	58					0	0	0.014410	0	0
BRCA2	675	broad.mit.edu	37	13	32937491	32937491	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:32937491A>G	ENST00000544455.1	+	18	8379	c.8152A>G	c.(8152-8154)Att>Gtt	p.I2718V	BRCA2_ENST00000380152.3_Missense_Mutation_p.I2718V	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2718					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.I2718V(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAGTGGCCATTATTGAACT	0.398000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			40	219					0	0	0.011902	0	0
FAM47B	170062	broad.mit.edu	37	X	34961712	34961712	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:34961712G>T	ENST00000329357.5	+	1	800	c.764G>T	c.(763-765)gGa>gTa	p.G255V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	255	Pro-rich.							p.G255V(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCCGAGACTGGAGTGTCCCAT	0.637000													14	41					9.05144e-12	1.3391e-11	0.016723	1	0
FMR1	2332	broad.mit.edu	37	X	147011477	147011477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:147011477G>T	ENST00000218200.8	+	6	659	c.430G>T	c.(430-432)Gag>Tag	p.E144*	FMR1_ENST00000370477.1_Nonsense_Mutation_p.E144*|FMR1_ENST00000370470.1_Nonsense_Mutation_p.E144*|FMR1_ENST00000370475.4_Nonsense_Mutation_p.E144*|FMR1_ENST00000370471.3_Nonsense_Mutation_p.E144*|FMR1_ENST00000439526.2_Nonsense_Mutation_p.E144*|FMR1_ENST00000334557.6_Nonsense_Mutation_p.E144*	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	144					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	p.E144*(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGCCAAAGAGGCGGCACA	0.328000									Fragile X syndrome				6	39					0.00198382	0.00214417	0.001984	1	0
KRT6B	3854	broad.mit.edu	37	12	52843562	52843562	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:52843562G>T	ENST00000252252.3	-	4	939	c.892C>A	c.(892-894)Ctg>Atg	p.L298M		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	298	Coil 1B.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.F297_L298>LM(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		AAGGCTCTCAGGAAGTTGATC	0.498000													43	94					5.7616e-29	1.0946e-28	0.014410	1	0
VNN3	55350	broad.mit.edu	37	6	133044911	133044911	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:133044911G>C	ENST00000207771.3	-	7	1408	c.1336C>G	c.(1336-1338)Cta>Gta	p.L446V	VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000425515.2_3'UTR					vanin 3									p.L446V(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		CTCCCACTTAGAATGATCTGT	0.468000													5	12					0	0	0.021553	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20582347	20582347	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:20582347T>C	ENST00000202677.6	-	16	2324	c.2182A>G	c.(2182-2184)Att>Gtt	p.I728V	RALGAPA2_ENST00000495793.1_5'UTR	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	728					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.I728V(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGGCGAACAATATTTCTTGCC	0.398000													3	50					0	0	0.004672	0	0
GPR156	165829	broad.mit.edu	37	3	119900182	119900182	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:119900182G>T	ENST00000464295.1	-	8	1168	c.723C>A	c.(721-723)taC>taA	p.Y241*	GPR156_ENST00000315843.3_Nonsense_Mutation_p.Y241*|GPR156_ENST00000461057.1_Nonsense_Mutation_p.Y237*			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	241						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.Y241*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGCCAGCCAGGTAGGCACCAT	0.562000													25	97					1.38267e-23	2.54792e-23	0.027356	1	0
DPP4	1803	broad.mit.edu	37	2	162895493	162895493	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:162895493T>A	ENST00000360534.3	-	7	1018	c.458A>T	c.(457-459)cAg>cTg	p.Q153L		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	153					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.Q153L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TGTGACCCACTGTGTGTTGTT	0.373000													25	53					0	0	0.008361	0	0
CYBB	1536	broad.mit.edu	37	X	37653016	37653016	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:37653016G>T	ENST00000378588.4	+	5	503	c.436G>T	c.(436-438)Gac>Tac	p.D146Y	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.D114Y	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	146	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	p.D146Y(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TGAACTTGGAGACAGGCAAAA	0.383000													21	94					6.33239e-15	1.03198e-14	0.010504	1	0
HEPH	9843	broad.mit.edu	37	X	65413471	65413471	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:65413471G>T	ENST00000519389.1	+	8	1701	c.1522G>T	c.(1522-1524)Gga>Tga	p.G508*	HEPH_ENST00000336279.5_Nonsense_Mutation_p.G187*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.G457*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.G457*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.G454*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.G457*			Q9BQS7	HEPH_HUMAN	hephaestin	454	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.G454*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TAGGCATCTTGGAATCCTGGG	0.428000													14	32					1.15088e-07	1.45852e-07	0.028581	1	0
ATP9A	10079	broad.mit.edu	37	20	50346457	50346457	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:50346457C>A	ENST00000338821.5	-	2	393	c.129G>T	c.(127-129)ctG>ctT	p.L43L	ATP9A_ENST00000311637.5_Silent_p.L28L|ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000402822.1_Silent_p.L43L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	43					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.L43L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGGGGTGCCCCAGCCAGACAG	0.597000													25	69					7.38237e-10	1.02527e-09	0.006320	1	0
CRIM1	51232	broad.mit.edu	37	2	36669769	36669769	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:36669769G>T	ENST00000280527.2	+	4	1127	c.760G>T	c.(760-762)Gac>Tac	p.D254Y		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	254					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	p.D254Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TTTCGGCGTGGACTGCAGGAC	0.468000													53	80					2.5401e-28	4.77355e-28	0.014410	1	0
ZNF398	57541	broad.mit.edu	37	7	148851299	148851299	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:148851299G>T	ENST00000475153.1	+	2	554	c.287G>T	c.(286-288)tGg>tTg	p.W96L	ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.W101L|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000420008.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	96					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W96L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GAGGGCAAGTGGGCCGTGCTG	0.597000													24	52					1.66031e-10	2.36248e-10	0.021523	1	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													3	34					0	0	0.014758	0	0
CDH23	64072	broad.mit.edu	37	10	73406454	73406454	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:73406454G>T	ENST00000398809.4	+	14	1919	c.1529G>T	c.(1528-1530)aGg>aTg	p.R510M	CDH23_ENST00000461841.3_Missense_Mutation_p.R555M|CDH23_ENST00000398842.3_Missense_Mutation_p.R510M|CDH23_ENST00000299366.7_Intron|CDH23_ENST00000224721.6_Intron	NM_052836.3	NP_443068.1	Q9H251	CAD23_HUMAN	cadherin-related 23	0	Cadherin 5.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.R510M(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TTTTGTCCAAGGGACCTCAGC	0.552000													14	16					1.5842e-08	2.08101e-08	0.016723	1	0
DHX30	22907	broad.mit.edu	37	3	47870539	47870539	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:47870539C>T	ENST00000446256.2	+	7	736	c.164C>T	c.(163-165)cCc>cTc	p.P55L	DHX30_ENST00000348968.4_Missense_Mutation_p.P66L|DHX30_ENST00000457607.1_Missense_Mutation_p.P122L|DHX30_ENST00000445061.1_Missense_Mutation_p.P94L	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	94	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.P94L(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATAAAATGGCCCAAGAGCGTG	0.498000													5	7					0	0	0.014758	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377165	104377165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:104377165G>A	ENST00000535008.1	+	4	613	c.489G>A	c.(487-489)tgG>tgA	p.W163*	LHFPL3_ENST00000401970.2_Nonsense_Mutation_p.W149*|LHFPL3_ENST00000543266.1_Nonsense_Mutation_p.W163*|LHFPL3_ENST00000424859.1_Nonsense_Mutation_p.W149*			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	149						integral to membrane		p.W163*(1)		kidney(1)|large_intestine(2)|lung(6)	9						CTGATGGCTGGGACTCAGATG	0.423000													18	19					0	0	0.007413	0	0
A1BG	1	broad.mit.edu	37	19	58864391	58864391	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:58864391G>C	ENST00000263100.3	-	3	304	c.243C>G	c.(241-243)ttC>ttG	p.F81L	A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	81	Ig-like V-type 1.					extracellular region		p.F81L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCGTCAGCAGGAACTGGTGCT	0.637000													11	63					0	0	0.016723	0	0
TET1	80312	broad.mit.edu	37	10	70332883	70332883	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:70332883A>G	ENST00000373644.4	+	2	997	c.788A>G	c.(787-789)cAa>cGa	p.Q263R		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	263					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.Q263R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTTACCTCTCAAGGAAACCCC	0.433000													9	64					0	0	0.010729	0	0
DLGAP1	9229	broad.mit.edu	37	18	3845282	3845282	+	Translation_Start_Site	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:3845282T>C	ENST00000400147.2	-	1	77	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	DLGAP1_ENST00000534970.1_Intron|DLGAP1_ENST00000400145.2_Start_Codon_SNP_p.M1V|DLGAP1_ENST00000400149.3_Intron|DLGAP1_ENST00000315677.3_Intron|DLGAP1_ENST00000581699.1_Intron|DLGAP1_ENST00000539435.1_Start_Codon_SNP_p.M1V|DLGAP1_ENST00000515196.2_Intron|DLGAP1_ENST00000581527.1_Intron|DLGAP1_ENST00000400155.1_Intron|DLGAP1_ENST00000478161.1_Intron|DLGAP1_ENST00000400150.3_Intron|DLGAP1_ENST00000584874.1_Intron	NM_001003809.2	NP_001003809.1	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	0					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.M1V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATTAAGTTCATTATTCATCTC	0.368000													20	24					0	0	0.010504	0	0
CACNA1F	778	broad.mit.edu	37	X	49063213	49063213	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:49063213G>A	ENST00000376265.2	-	45	5429	c.5368C>T	c.(5368-5370)Cgt>Tgt	p.R1790C	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1779C|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1725C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1790					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R1790C(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GGCAGCAGACGGCGGCGTGGT	0.612000													22	30					0	0	0.006320	0	0
PIK3R4	30849	broad.mit.edu	37	3	130435261	130435261	+	Silent	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:130435261A>C	ENST00000356763.3	-	9	2867	c.2310T>G	c.(2308-2310)ctT>ctG	p.L770L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	770					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.L770L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						ACTTCTTCAGAAGCTGTGCTA	0.398000													70	60					0	0	0.014410	0	0
NYAP2	57624	broad.mit.edu	37	2	226446931	226446931	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:226446931C>T	ENST00000272907.6	+	4	1211	c.798C>T	c.(796-798)gcC>gcT	p.A266A	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	266								p.A266A(1)									AGAGCGAGGCCGTCTACGAGG	0.562000													41	87					0	0	0.025465	0	0
EPPIN	57119	broad.mit.edu	37	20	44170794	44170794	+	Splice_Site	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:44170794C>T	ENST00000354280.4	-	4	458		c.e4-1		EPPIN_ENST00000409554.1_Splice_Site|EPPIN_ENST00000336443.3_Splice_Site|EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron	NM_020398.3	NP_065131.1			epididymal peptidase inhibitor									p.?(2)									CAGGGAAAGCCTGCAGAGAAC	0.463000													9	23					0	0	0.008291	0	0
PCLO	27445	broad.mit.edu	37	7	82544891	82544891	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:82544891C>A	ENST00000423517.2	-	7	12748	c.12411G>T	c.(12409-12411)gaG>gaT	p.E4137D	PCLO_ENST00000333891.8_Missense_Mutation_p.E4137D|PCLO_ENST00000437081.1_Missense_Mutation_p.E857D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4068					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E4137D(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATCTAAGCTCTCTGTCCCTC	0.413000													13	81					9.31168e-06	1.11122e-05	0.016723	1	0
NXT2	55916	broad.mit.edu	37	X	108785910	108785910	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:108785910G>T	ENST00000218004.1	+	5	689	c.587G>T	c.(586-588)aGt>aTt	p.S196I	NXT2_ENST00000372106.1_Missense_Mutation_p.S141I|NXT2_ENST00000372103.1_Missense_Mutation_p.S113I|NXT2_ENST00000372107.1_Missense_Mutation_p.S113I	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	141					mRNA transport|protein transport	cytoplasm|nucleus				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						GATTGGTCTAGTAGTTAAAGG	0.383000													21	115					7.92952e-12	1.17479e-11	0.021523	1	0
MIF4GD	57409	broad.mit.edu	37	17	73262985	73262985	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:73262985G>T	ENST00000577542.1	-	7	890	c.628C>A	c.(628-630)Cgc>Agc	p.R210S	MIF4GD_ENST00000325102.8_Missense_Mutation_p.R169S|MIF4GD_ENST00000245551.5_Missense_Mutation_p.R203S|MIF4GD_ENST00000580571.1_Missense_Mutation_p.R117S|MIF4GD_ENST00000579297.1_Missense_Mutation_p.R210S|MIF4GD_ENST00000578305.1_3'UTR|MIF4GD_ENST00000579119.1_Missense_Mutation_p.R198S			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	169					regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding	p.R203S(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TCATCCATGCGCTGCCCATTC	0.592000													15	29					1.02788e-11	1.51638e-11	0.004990	1	0
GALNT7	51809	broad.mit.edu	37	4	174169425	174169425	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:174169425G>C	ENST00000265000.4	+	2	504	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	GALNT7_ENST00000512285.1_Missense_Mutation_p.E141Q	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	141					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E141Q(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CAAAGAACCTGAGCCTCCTGG	0.493000													25	46					0	0	0.021523	0	0
RYR3	6263	broad.mit.edu	37	15	33999197	33999197	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:33999197G>T	ENST00000389232.4	+	43	6631	c.6561G>T	c.(6559-6561)tgG>tgT	p.W2187C	RYR3_ENST00000415757.3_Missense_Mutation_p.W2187C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2187	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.W2187C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGTCGGCTGGAACCCCATTG	0.522000													6	12					0.0215528	0.02239	0.021553	1	0
CABS1	85438	broad.mit.edu	37	4	71200971	71200971	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:71200971A>T	ENST00000273936.4	+	1	274	c.215A>T	c.(214-216)aAg>aTg	p.K72M		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	72						flagellum	calcium ion binding	p.K72M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACAGCTAAAAAGGAAAAACTC	0.373000													53	69					0	0	0.014410	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104307	142104307	+	RNA	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:142104307C>G	ENST00000390379.1	-	0	157																											TTGTCGATACCAGGACAAGTA	0.507000													29	108					0	0	0.010818	0	0
AIRE	326	broad.mit.edu	37	21	45713743	45713743	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:45713743C>G	ENST00000329347.4	+	6	647	c.647C>G	c.(646-648)cCg>cGg	p.P216R	AIRE_ENST00000291582.5_Silent_p.A450A|AIRE_ENST00000355347.4_Silent_p.A243A			O43918	AIRE_HUMAN	autoimmune regulator	252	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	p.A253A(1)|p.A450A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CTCACTGCGCCGCTGCCTTCC	0.701000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				4	17					0	0	0.014758	0	0
KDR	3791	broad.mit.edu	37	4	55981512	55981512	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:55981512T>C	ENST00000263923.4	-	4	720	c.425A>G	c.(424-426)aAa>aGa	p.K142R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	142	Ig-like C2-type 2.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.K142R(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGTTTTGTTTTTGTTCTCAGT	0.358000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			18	27					0	0	0.008871	0	0
PXDNL	137902	broad.mit.edu	37	8	52370125	52370125	+	Nonsense_Mutation	SNP	G	G	T	rs146964162	by1000genomes	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:52370125G>T	ENST00000356297.4	-	9	1015	c.915C>A	c.(913-915)tgC>tgA	p.C305*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.C305*	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	305	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.C305*(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTCTGGCCATGCACTGATAGA	0.428000													19	86					8.28177e-16	1.37109e-15	0.007413	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85623409	85623409	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:85623409G>C	ENST00000393217.2	+	25	4998	c.4937G>C	c.(4936-4938)aGt>aCt	p.S1646T	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1646								p.S1646T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAACGACTAGTTCCAGAAAT	0.343000													13	53					0	0	0.024245	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110453508	110453508	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:110453508C>A	ENST00000378402.5	+	34	4208	c.4104C>A	c.(4102-4104)tcC>tcA	p.S1368S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1368	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1370S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCTAGGGTCCATCCCTTGCA	0.303000										HNSCC(38;0.096)			3	11					0.00024832	0.000277597	0.009096	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110432916	110432916	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:110432916G>T	ENST00000378402.5	+	23	2798	c.2694G>T	c.(2692-2694)ggG>ggT	p.G898G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	898					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G900G(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGAGCTTTGGGCAGGTAAGCC	0.313000										HNSCC(38;0.096)			25	87					3.73148e-12	5.61606e-12	0.007291	1	0
PHLDB1	23187	broad.mit.edu	37	11	118498933	118498933	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:118498933C>T	ENST00000361417.2	+	7	1805	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S465F	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	465								p.S465F(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCATCTCTGTCCCGGCGAGCT	0.677000													6	96					0	0	0.021553	0	0
ARID1B	57492	broad.mit.edu	37	6	157222534	157222534	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:157222534G>T	ENST00000346085.5	+	4	1802	c.1801G>T	c.(1801-1803)Ggt>Tgt	p.G601C	ARID1B_ENST00000275248.4_Missense_Mutation_p.G530C|ARID1B_ENST00000350026.5_Missense_Mutation_p.G588C|ARID1B_ENST00000367148.1_Missense_Mutation_p.G588C	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	588	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.G530C(1)|p.G601C(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGGACAGCAAGGTGTGAGTGG	0.498000													3	32					2.56e-06	3.11925e-06	0.009096	1	0
EIF4G1	1981	broad.mit.edu	37	3	184049277	184049277	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:184049277G>C	ENST00000342981.4	+	29	4695	c.4281G>C	c.(4279-4281)ctG>ctC	p.L1427L	EIF4G1_ENST00000435046.2_Silent_p.L1230L|EIF4G1_ENST00000427845.1_Silent_p.L1340L|EIF4G1_ENST00000392537.2_Silent_p.L1339L|EIF4G1_ENST00000434061.2_Silent_p.L1231L|EIF4G1_ENST00000411531.1_Silent_p.L1387L|EIF4G1_ENST00000352767.3_Silent_p.L1433L|EIF4G1_ENST00000319274.6_Silent_p.L1426L|EIF4G1_ENST00000414031.1_Silent_p.L1386L|EIF4G1_ENST00000346169.2_Silent_p.L1426L|EIF4G1_ENST00000441154.1_Silent_p.L1263L|EIF4G1_ENST00000350481.5_Silent_p.L1262L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Silent_p.L1433L|EIF4G1_ENST00000424196.1_Silent_p.L1433L	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1426					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.L1426L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTATACCCTGGGAGAGGAGT	0.577000													6	236					0	0	0.021553	0	0
TPTE	7179	broad.mit.edu	37	21	10916476	10916476	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:10916476C>A	ENST00000298232.7	-	19	1484		c.e19-1		TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000361285.4_Splice_Site	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATATCTCTTCTGAAAAGCAA	0.333000													10	91					0.010729	0.0113034	0.010729	1	0
GPR52	9293	broad.mit.edu	37	1	174417343	174417343	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:174417343G>T	ENST00000367685.2	+	1	132	c.94G>T	c.(94-96)Ggc>Tgc	p.G32C	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	32						integral to plasma membrane	G-protein coupled receptor activity	p.G32C(1)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						ACTTGGATTTGGCCACTACAG	0.473000													10	52					2.17888e-05	2.57078e-05	0.006214	1	0
NEUROD2	4761	broad.mit.edu	37	17	37762573	37762573	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:37762573C>A	ENST00000302584.4	-	2	500	c.280G>T	c.(280-282)Gac>Tac	p.D94Y		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	94					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.D94Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			TCCGCCTCGTCCAGTCCTtct	0.667000													3	1					0.004672	0.00497234	0.004672	1	0
CHST1	8534	broad.mit.edu	37	11	45671409	45671409	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:45671409G>T	ENST00000308064.2	-	4	1735	c.1065C>A	c.(1063-1065)gcC>gcA	p.A355A		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	355					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.A355A(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TCTCGGCCGTGGCCGCCGAGT	0.672000													89	46					3.05217e-42	6.01779e-42	0.014410	1	0
LPPR4	9890	broad.mit.edu	37	1	99772039	99772039	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:99772039C>A	ENST00000370185.3	+	7	2262	c.1765C>A	c.(1765-1767)Ctc>Atc	p.L589I	LPPR4_ENST00000370184.1_Missense_Mutation_p.L431I|LPPR4_ENST00000457765.1_Missense_Mutation_p.L531I	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		589							phosphatidate phosphatase activity	p.L589I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCAGGGTGTCCTCCAAAGCAG	0.532000													11	19					6.40141e-05	7.32091e-05	0.010729	1	0
PITPNM3	83394	broad.mit.edu	37	17	6364785	6364785	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:6364785T>A	ENST00000262483.8	-	18	2485	c.2398A>T	c.(2398-2400)Aac>Tac	p.N800Y	ACKR6_ENST00000421306.3_Missense_Mutation_p.N764Y|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2												p.N800Y(1)									TGTGGGAAGTTGTGCTGGGAC	0.602000													47	67					0	0	0.014410	0	0
DCHS1	8642	broad.mit.edu	37	11	6651268	6651268	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:6651268G>A	ENST00000299441.3	-	10	5168	c.4757C>T	c.(4756-4758)tCt>tTt	p.S1586F		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1586	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S1586F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCCCGCCAGATGCCAGCCG	0.687000													4	14					0	0	0.014758	0	0
VAX2	25806	broad.mit.edu	37	2	71148364	71148364	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:71148364G>T	ENST00000234392.2	+	2	416	c.384G>T	c.(382-384)gtG>gtT	p.V128V		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	128					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V128V(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						AGTATGTGGTGGGCCGCGAGC	0.657000													14	52					4.14922e-12	6.21786e-12	0.028581	1	0
DST	667	broad.mit.edu	37	6	56473996	56473996	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:56473996T>C	ENST00000370754.5	-	39	5330	c.5331A>G	c.(5329-5331)ccA>ccG	p.P1777P	DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Silent_p.P1273P|DST_ENST00000370769.4_Silent_p.P1599P|DST_ENST00000312431.6_Silent_p.P1599P|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Silent_p.P1599P			Q03001	DYST_HUMAN	dystonin	1599					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTTAATTCTGGTGAAATTA	0.378000													59	53					0	0	0.014410	0	0
PABPC5	140886	broad.mit.edu	37	X	90691663	90691663	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:90691663G>T	ENST00000312600.3	+	2	1301	c.1087G>T	c.(1087-1089)Ggc>Tgc	p.G363C	PABPC5_ENST00000373105.1_Missense_Mutation_p.G199C	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	363	RRM 4.					cytoplasm	nucleotide binding|RNA binding	p.G363C(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGAGATGAATGGCCGCATAGT	0.532000													16	67					1.15088e-07	1.45852e-07	0.028581	1	0
ANKRD33	341405	broad.mit.edu	37	12	52282598	52282598	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:52282598G>T	ENST00000301190.6	+	2	619	c.392G>T	c.(391-393)gGg>gTg	p.G131V	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_5'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	191								p.G131V(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GACAGCAATGGGAGGGTGAGA	0.617000													17	75					3.51602e-12	5.29943e-12	0.008871	1	0
ASMT	438	broad.mit.edu	37	X	1743279	1743279	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:1743279C>T	ENST00000381241.3	+	3	561	c.362C>T	c.(361-363)gCa>gTa	p.A121V	ASMT_ENST00000381229.4_Missense_Mutation_p.A121V|ASMT_ENST00000381233.3_Missense_Mutation_p.A121V	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	121					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	p.A121V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCCACCTGGCAGACGCCGTG	0.672000													4	70					0	0	0.009096	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895638	42895638	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:42895638C>T	ENST00000399770.2	+	1	355	c.355C>T	c.(355-357)Cta>Tta	p.L119L		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	119					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.L119L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGGCCAGGCTCTATTTAACAA	0.433000													73	90					0	0	0.014410	0	0
LILRB5	10990	broad.mit.edu	37	19	54758731	54758731	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:54758731A>T	ENST00000450632.1	-	6	1172	c.1095T>A	c.(1093-1095)taT>taA	p.Y365*	LILRB5_ENST00000316219.5_Nonsense_Mutation_p.Y374*|LILRB5_ENST00000345866.6_Nonsense_Mutation_p.Y274*|LILRB5_ENST00000449561.2_Nonsense_Mutation_p.Y374*			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	374	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.Y374*(1)|p.Y365Y(1)|p.Y365*(1)|p.Y374Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGGTGTCTATAAGACTGGT	0.537000													28	36					0	0	0.010818	0	0
SLC6A4	6532	broad.mit.edu	37	17	28539837	28539837	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:28539837C>T	ENST00000401766.2	-	8	1637	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	SLC6A4_ENST00000261707.3_Silent_p.S375S			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	375					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	p.S375S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TGACAAATCCCGAAACGAAGC	0.552000													15	44					0	0	0.028581	0	0
SLC9A6	10479	broad.mit.edu	37	X	135106567	135106567	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:135106567C>A	ENST00000370695.4	+	12	1576	c.1541C>A	c.(1540-1542)aCg>aAg	p.T514K	SLC9A6_ENST00000370698.3_Missense_Mutation_p.T482K|SLC9A6_ENST00000370701.1_Missense_Mutation_p.T462K	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	482					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.T482K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTCAGCACCACGCTTCTGATT	0.473000													16	106					0.000958276	0.00105319	0.007413	1	0
EYS	346007	broad.mit.edu	37	6	66063473	66063473	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:66063473C>A	ENST00000503581.1	-	9	1874	c.1337G>T	c.(1336-1338)tGg>tTg	p.W446L	EYS_ENST00000393380.2_Missense_Mutation_p.W446L|EYS_ENST00000370616.2_Missense_Mutation_p.W446L|EYS_ENST00000342421.5_Missense_Mutation_p.W446L|EYS_ENST00000370621.3_Missense_Mutation_p.W446L|EYS_ENST00000370618.3_Missense_Mutation_p.W446L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	446					response to stimulus|visual perception	extracellular region	calcium ion binding	p.W446>?(2)|p.W446L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTTCAAAAACCAACATGGATT	0.333000													7	30					0.00198382	0.00214417	0.001984	1	0
LRRC30	339291	broad.mit.edu	37	18	7231799	7231799	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:7231799C>A	ENST00000383467.2	+	1	677	c.663C>A	c.(661-663)atC>atA	p.I221I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	221								p.I221I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCAACAACATCCACTCCTTCC	0.567000													12	17					7.93312e-07	9.80361e-07	0.020292	1	0
HEPN1	641654	broad.mit.edu	37	11	124789651	124789651	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:124789651G>A	ENST00000408930.5	+	1	506	c.5G>A	c.(4-6)gGt>gAt	p.G2D	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	2						cytoplasm		p.G2D(1)		large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		GAGGTGATGGGTAACTGGGGC	0.542000													19	20					0	0	0.010504	0	0
NAIF1	203245	broad.mit.edu	37	9	130825873	130825873	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:130825873T>A	ENST00000373078.4	-	2	1037	c.818A>T	c.(817-819)cAg>cTg	p.Q273L	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	273					apoptosis|induction of apoptosis	nucleus		p.Q273L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCCATGGCCTGGGCCTGGCG	0.617000													22	30					0	0	0.016522	0	0
GPD2	2820	broad.mit.edu	37	2	157426037	157426037	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:157426037G>C	ENST00000310454.6	+	11	1835	c.1463G>C	c.(1462-1464)gGa>gCa	p.G488A	GPD2_ENST00000438166.2_Missense_Mutation_p.G488A|GPD2_ENST00000409125.4_Missense_Mutation_p.G261A|GPD2_ENST00000409674.1_Missense_Mutation_p.G488A|GPD2_ENST00000540309.1_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	488					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	p.G488A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CAGGATTATGGACTTGAAAGC	0.468000													12	69					0	0	0.013537	0	0
MUC5B	727897	broad.mit.edu	37	11	1246915	1246915	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:1246915C>T	ENST00000447027.1	+	2	133	c.75C>T	c.(73-75)acC>acT	p.T25T	MUC5B_ENST00000529681.1_Silent_p.T25T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	25					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T25T(2)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACAGAGACCCAGGGCCCTG	0.652000													3	6					0	0	0.004672	0	0
VPREB1	7441	broad.mit.edu	37	22	22599662	22599662	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:22599662G>T	ENST00000403807.3	+	2	490	c.351G>T	c.(349-351)atG>atT	p.M117I	VPREB1_ENST00000302273.2_Missense_Mutation_p.M116I			P12018	VPREB_HUMAN	pre-B lymphocyte 1	117	Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding	p.M117I(1)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		ACTGTGCTATGGGGGCCCGCA	0.572000													9	16					1.76689e-08	2.30936e-08	0.006214	1	0
INSC	387755	broad.mit.edu	37	11	15222397	15222397	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:15222397G>T	ENST00000379554.3	+	7	908	c.862G>T	c.(862-864)Gtt>Ttt	p.V288F	INSC_ENST00000379556.3_Missense_Mutation_p.V241F|INSC_ENST00000424273.1_Intron|INSC_ENST00000530161.1_Missense_Mutation_p.V241F|INSC_ENST00000525218.1_Intron|INSC_ENST00000528567.1_Missense_Mutation_p.V241F|INSC_ENST00000447214.2_Intron	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	288					cell differentiation|nervous system development	cytoplasm	binding	p.V288F(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACTCTTCAAGGTTTGCCGGCA	0.557000													10	33					3.86212e-05	4.45596e-05	0.008291	1	0
LCT	3938	broad.mit.edu	37	2	136569967	136569967	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:136569967C>T	ENST00000264162.2	-	7	2277	c.2267G>A	c.(2266-2268)gGc>gAc	p.G756D		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	756	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G756D(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TATGGGCATGCCATTCCCGGC	0.438000													5	161					0	0	0.021553	0	0
MYH2	4620	broad.mit.edu	37	17	10430338	10430338	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:10430338G>C	ENST00000245503.5	-	29	4291	c.3907C>G	c.(3907-3909)Ctg>Gtg	p.L1303V	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1303V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1303					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1303V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAGACACCAGAGCTTCCTTT	0.383000													13	39					0	0	0.016723	0	0
MAPK10	5602	broad.mit.edu	37	4	87028474	87028474	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:87028474C>A	ENST00000395169.3	-	5	874	c.154G>T	c.(154-156)Gtg>Ttg	p.V52L	MAPK10_ENST00000395157.3_5'UTR|MAPK10_ENST00000395160.3_5'UTR|MAPK10_ENST00000359221.3_Missense_Mutation_p.V90L|MAPK10_ENST00000395161.2_Missense_Mutation_p.V90L|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000361569.2_Missense_Mutation_p.V90L|MAPK10_ENST00000395166.1_Missense_Mutation_p.V52L|MAPK10_ENST00000513839.1_5'UTR	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	90					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	p.V90L(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TTAATGGCCACATTTCTGTCA	0.448000													8	57					0.000274275	0.000304978	0.004482	1	0
DEFB119	245932	broad.mit.edu	37	20	29976907	29976907	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:29976907A>T	ENST00000376315.2	-	2	187	c.188T>A	c.(187-189)aTt>aAt	p.I63N	DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	0					defense response to bacterium	extracellular region		p.I63N(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GATTCCATGAATTGTTACTGG	0.413000													54	92					0	0	0.014410	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873299	91873299	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:91873299C>A	ENST00000373094.1	+	7	4249	c.3404C>A	c.(3403-3405)gCc>gAc	p.A1135D	PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1125D|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1117D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1098D|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1098D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1127D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1135					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.A1135D(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGGAAGAGGCCTCTGACAAC	0.433000													31	11					7.01153e-11	1.00454e-10	0.007291	1	0
ZFHX3	463	broad.mit.edu	37	16	72834018	72834018	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:72834018G>C	ENST00000268489.5	-	8	4547	c.3875C>G	c.(3874-3876)cCt>cGt	p.P1292R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P378R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1292					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P1292R(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CACCATCTCAGGGGTGGTCAC	0.453000													14	35					0	0	0.020292	0	0
HSPA13	6782	broad.mit.edu	37	21	15753637	15753637	+	Missense_Mutation	SNP	C	C	A	rs140867763		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:15753637C>A	ENST00000285667.3	-	2	320	c.253G>T	c.(253-255)Gta>Tta	p.V85L	HSPA13_ENST00000478035.1_5'UTR|HSPA13_ENST00000544452.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	85						endoplasmic reticulum|microsome	ATP binding	p.V85L(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCCAGCTCTACGCTTTCATAT	0.403000													29	67					1.12875e-08	1.49592e-08	0.006320	1	0
METTL2B	55798	broad.mit.edu	37	7	128116825	128116825	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:128116825C>T	ENST00000262432.8	+	1	43	c.6C>T	c.(4-6)gcC>gcT	p.A2A	METTL2B_ENST00000480046.1_5'UTR	NM_018396.2	NP_060866.2	Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	2							methyltransferase activity	p.A2A(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GTGTCATGGCCGGCTCCTACC	0.602000											OREG0018295	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	10					0	0	0.016522	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86844845	86844845	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:86844845C>T	ENST00000395184.1	+	4	779	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F	ARHGAP24_ENST00000503995.1_Missense_Mutation_p.L105F|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.L10F	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	105	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.L105F(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGCTACCTCCTCATGGCAAG	0.473000													7	49					0	0	0.003080	0	0
NUP153	9972	broad.mit.edu	37	6	17688816	17688816	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:17688816T>C	ENST00000262077.2	-	2	144	c.145A>G	c.(145-147)Aat>Gat	p.N49D	NUP153_ENST00000537253.1_Missense_Mutation_p.N49D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	49					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	p.N49D(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGCACAATATTCTTAACAGAT	0.368000													12	117					0	0	0.020292	0	0
CELF2	10659	broad.mit.edu	37	10	11299787	11299787	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:11299787C>A	ENST00000379261.4	+	5	561	c.469C>A	c.(469-471)Cag>Aag	p.Q157K	CELF2_ENST00000354440.2_Missense_Mutation_p.Q133K|CELF2_ENST00000542579.1_Missense_Mutation_p.Q164K|CELF2_ENST00000315874.3_Missense_Mutation_p.Q133K|CELF2_ENST00000354897.3_Missense_Mutation_p.Q133K|CELF2_ENST00000450189.1_Missense_Mutation_p.Q164K|CELF2_ENST00000537122.1_Missense_Mutation_p.Q46K|CELF2_ENST00000417956.2_Missense_Mutation_p.Q133K|CELF2_ENST00000399850.3_Missense_Mutation_p.Q133K|CELF2_ENST00000416382.2_Missense_Mutation_p.Q157K|CELF2_ENST00000427450.1_Missense_Mutation_p.Q133K	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	157	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	p.Q152K(1)|p.Q157K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TCCATTTGGCCAGATAGAAGA	0.478000													21	38					1.55795e-14	2.5115e-14	0.012319	1	0
VNN1	8876	broad.mit.edu	37	6	133004338	133004338	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:133004338G>T	ENST00000367928.4	-	7	1496	c.1483C>A	c.(1483-1485)Caa>Aaa	p.Q495K		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	495					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	p.Q495K(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ATTCTTGCTTGTGCTGTGAGG	0.368000													16	58					6.49762e-13	1.004e-12	0.006122	1	0
INSRR	3645	broad.mit.edu	37	1	156812857	156812857	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:156812857C>T	ENST00000368195.3	-	17	3461	c.3065G>A	c.(3064-3066)cGg>cAg	p.R1022Q	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1022	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.R1022Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AATGCATTCCCGTGGGCTGGC	0.537000													31	38					0	0	0.012213	0	0
IGSF3	3321	broad.mit.edu	37	1	117122426	117122426	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:117122426A>G	ENST00000369486.3	-	10	3687	c.2922T>C	c.(2920-2922)tgT>tgC	p.C974C	IGSF3_ENST00000318837.6_Silent_p.C994C|IGSF3_ENST00000369483.1_Silent_p.C994C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	974	Ig-like C2-type 8.					integral to membrane		p.C974C(1)|p.C994C(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACACGATGCTACAGTCCAGCT	0.602000													12	24					0	0	0.013537	0	0
LRRC16B	90668	broad.mit.edu	37	14	24538064	24538064	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:24538064C>A	ENST00000342740.5	+	38	4025	c.3871C>A	c.(3871-3873)Cag>Aag	p.Q1291K	LRRC16B_ENST00000334420.7_Missense_Mutation_p.Q344K	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1291								p.Q1291K(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCAGCCTCCCCAGGAGCCAGG	0.647000													5	13					8.12818e-05	9.21489e-05	0.001984	1	0
GBA3	57733	broad.mit.edu	37	4	22749027	22749027	+	RNA	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:22749027G>T	ENST00000511446.1	+	0	398				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.G132V(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACCAAGGAGGTTGGTTGTCA	0.403000													64	107					1.22119e-34	2.37631e-34	0.014410	1	0
DCXR	51181	broad.mit.edu	37	17	79994492	79994492	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:79994492C>A	ENST00000306869.2	-	5	425	c.376G>T	c.(376-378)Gga>Tga	p.G126*	DCXR_ENST00000584318.1_5'UTR	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	126					D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity	p.G126*(1)		kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCTGGGACTCCCCGGGCTATT	0.622000													12	30					2.27111e-07	2.85394e-07	0.013537	1	0
IKBKE	9641	broad.mit.edu	37	1	206653244	206653244	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:206653244A>G	ENST00000367120.3	+	11	1588	c.1215A>G	c.(1213-1215)aaA>aaG	p.K405K	IKBKE_ENST00000537984.1_Silent_p.K320K|IKBKE_ENST00000462698.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	405					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.K405K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TCGTCCCCAAAGTGGACCTGC	0.602000											OREG0014170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	24					0	0	0.009096	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17365138	17365138	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:17365138G>T	ENST00000377602.4	-	7	728	c.654C>A	c.(652-654)acC>acA	p.T218T		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	218					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.T218T(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CATCTCCTGTGGTTGGGGGTA	0.353000													14	81					3.52763e-06	4.27331e-06	0.004990	1	0
OR2M3	127062	broad.mit.edu	37	1	248366414	248366414	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:248366414G>T	ENST00000456743.1	+	1	83	c.45G>T	c.(43-45)ctG>ctT	p.L15L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L15L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATCCTCCTGGGAATCTTCA	0.463000													36	206					8.16277e-20	1.43329e-19	0.027894	1	0
SLC34A2	10568	broad.mit.edu	37	4	25675965	25675965	+	Missense_Mutation	SNP	G	G	T	rs116219115	by1000genomes	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:25675965G>T	ENST00000382051.3	+	11	1314	c.1264G>T	c.(1264-1266)Gtc>Ttc	p.V422F	SLC34A2_ENST00000504570.1_Missense_Mutation_p.V421F|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V421F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	422					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.V422F(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGCCATCCTCGTCGGGGCAGG	0.577000			T	ROS1	NSCLC								29	58					8.88839e-20	1.55547e-19	0.010818	1	0
ZNF274	10782	broad.mit.edu	37	19	58724291	58724291	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:58724291C>T	ENST00000326804.4	+	9	2200	c.1741C>T	c.(1741-1743)Ctg>Ttg	p.L581L	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.L549L|ZNF274_ENST00000424679.2_Silent_p.L476L	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	582					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.L549L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CTCCCAGCACCTGAGGACTCA	0.542000													15	76					0	0	0.020292	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184920	130184920	+	Silent	SNP	G	G	T	rs138159153	by1000genomes	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:130184920G>T	ENST00000422113.2	-	2	729	c.403C>A	c.(403-405)Cgg>Agg	p.R135R		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	135						integral to membrane		p.R135R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTTTGTCCCGCAGGATGTGG	0.537000													20	27					8.34094e-07	1.02954e-06	0.008871	1	0
SERPINB12	89777	broad.mit.edu	37	18	61234152	61234152	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:61234152G>T	ENST00000382768.1	+	7	1186	c.1186G>T	c.(1186-1188)Gtg>Ttg	p.V396L	SERPINB12_ENST00000269491.1_Missense_Mutation_p.V376L			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	376					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.V376L(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ACGATCTTGGGTGGAGTTTAA	0.463000													22	45					2.32416e-17	3.96742e-17	0.014323	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274398	39274398	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:39274398G>T	ENST00000391413.2	-	1	208	c.170C>A	c.(169-171)tCt>tAt	p.S57Y		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	57	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.S57Y(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCACACAGACTGGCAGCA	0.672000													16	22					3.45872e-05	4.06243e-05	0.028581	1	0
SCN9A	6335	broad.mit.edu	37	2	167168061	167168061	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:167168061C>A	ENST00000375387.4	-	2	546	c.206G>T	c.(205-207)gGc>gTc	p.G69V	SCN9A_ENST00000409435.1_Missense_Mutation_p.G69V|SCN9A_ENST00000409672.1_Missense_Mutation_p.G69V|SCN9A_ENST00000303354.6_Missense_Mutation_p.G69V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	69						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G69V(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGACACCATGCCGGGAGGAAT	0.483000													27	57					1.17739e-12	1.80857e-12	0.027356	1	0
IGDCC4	57722	broad.mit.edu	37	15	65702613	65702613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:65702613C>A	ENST00000352385.2	-	3	675	c.466G>T	c.(466-468)Gag>Tag	p.E156*		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	156	Ig-like C2-type 2.					integral to membrane|plasma membrane		p.E155_E156>D*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GTCCCGTTCTCCTCCACCGTC	0.577000													9	38					1.76689e-08	2.30936e-08	0.006214	1	0
CCKAR	886	broad.mit.edu	37	4	26483736	26483736	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:26483736G>T	ENST00000295589.3	-	5	1005	c.811C>A	c.(811-813)Ctg>Atg	p.L271M		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	271					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.L271M(2)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCTTTTGCAGGTAACACCCA	0.602000													30	106					7.11191e-15	1.15541e-14	0.013726	1	0
BPIFB6	128859	broad.mit.edu	37	20	31627309	31627309	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:31627309C>T	ENST00000349552.1	+	10	1057	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	353						extracellular region	lipid binding	p.L353F(1)									TCCAATGTCCCTCTTTCTCCT	0.537000													72	98					0	0	0.014410	0	0
TSIX	9383	broad.mit.edu	37	X	73046712	73046712	+	RNA	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:73046712C>A	ENST00000604411.1	+	0	34673				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GTTCTTAGGCCTTCCATGTGT	0.517000													43	77					1.5731e-28	2.96699e-28	0.011902	1	0
CROCCP2	84809	broad.mit.edu	37	1	16945464	16945464	+	RNA	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:16945464C>A	ENST00000412962.1	-	0	2055																											GCAGGCCTACCCGGTCCTGCT	0.642000													9	114					2.52707e-12	3.83658e-12	0.006214	1	0
RSPH6A	81492	broad.mit.edu	37	19	46299364	46299364	+	Splice_Site	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:46299364T>C	ENST00000221538.3	-	6	2059	c.1916_splice	c.e6-1	p.K639_splice	RSPH6A_ENST00000597055.1_Intron|RSPH6A_ENST00000600188.1_Splice_Site_p.K375_splice	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	639	Glu-rich.					intracellular		p.K639K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCTCAAACTTTCTGGAGAAGC	0.493000													29	107					0	0	0.006320	0	0
S100A5	6276	broad.mit.edu	37	1	153512581	153512581	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:153512581C>G	ENST00000359215.1	-	3	368	c.141G>C	c.(139-141)ctG>ctC	p.L47L	S100A5_ENST00000368717.2_Silent_p.L29L|S100A5_ENST00000368718.1_Silent_p.L29L			P33763	S10A5_HUMAN	S100 calcium binding protein A5	29	EF-hand 1.|EF-hand 2.					nucleus	calcium ion binding|copper ion binding|protein homodimerization activity|zinc ion binding	p.L47L(1)		endometrium(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTCCTACTCAGGGTCAGTT	0.522000													17	116					0	0	0.006122	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344464	38344464	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:38344464G>A	ENST00000374618.3	+	5	1590	c.1412G>A	c.(1411-1413)tGt>tAt	p.C471Y	ZNF33A_ENST00000432900.2_Missense_Mutation_p.C477Y|ZNF33A_ENST00000458705.2_Missense_Mutation_p.C470Y|ZNF33A_ENST00000307441.9_Missense_Mutation_p.C470Y|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	470						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C470Y(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCTTTTGAATGTCTTGAGTGT	0.383000													5	37					0	0	0.014758	0	0
OR2T33	391195	broad.mit.edu	37	1	248436676	248436676	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:248436676C>A	ENST00000318021.2	-	1	462	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W147C(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CACCCAGGAGCCAACACGACA	0.592000													24	93					1.55469e-16	2.6154e-16	0.018920	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160264211	160264211	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:160264211A>T	ENST00000264431.4	+	15	2935	c.2516A>T	c.(2515-2517)gAt>gTt	p.D839V		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	839	Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.D827V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTATTTCAAGATCTCCAAGAC	0.418000													5	37					0	0	0.014758	0	0
CIAO1	9391	broad.mit.edu	37	2	96936996	96936996	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:96936996G>T	ENST00000488633.1	+	7	1146	c.927G>T	c.(925-927)gtG>gtT	p.V309V		NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	309					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	p.V309V(1)		endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						TCAACTGTGTGGCCTGGAACC	0.602000													25	45					3.28513e-13	5.10639e-13	0.021523	1	0
BTNL8	79908	broad.mit.edu	37	5	180338529	180338529	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:180338529C>A	ENST00000231229.4	+	3	822	c.588C>A	c.(586-588)acC>acA	p.T196T	BTNL8_ENST00000400707.3_Silent_p.T71T|BTNL8_ENST00000508408.1_Silent_p.T196T|BTNL8_ENST00000340184.4_Silent_p.T196T|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000533815.2_Silent_p.T12T|BTNL8_ENST00000511704.1_Silent_p.T80T	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	196	Ig-like V-type 2.					integral to membrane		p.T196T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTCTGACCGTCCAAGAGA	0.547000													33	34					1.99505e-19	3.47966e-19	0.012213	1	0
SLC39A12	221074	broad.mit.edu	37	10	18242435	18242435	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:18242435G>A	ENST00000377369.2	+	2	503	c.230G>A	c.(229-231)aGg>aAg	p.R77K	SLC39A12_ENST00000377371.3_Missense_Mutation_p.R77K|SLC39A12_ENST00000377374.4_Missense_Mutation_p.R77K|SLC39A12_ENST00000539911.1_Intron	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	77					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.R77K(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGCCCACGGAGGAGAAACGGA	0.483000													7	22					0	0	0.003080	0	0
COL5A2	1290	broad.mit.edu	37	2	189917528	189917528	+	Splice_Site	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:189917528C>G	ENST00000374866.3	-	40	2936	c.2661_splice	c.e40-1	p.G888_splice		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	888					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G888R(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCATTAGGACCCTGAATAGAA	0.423000													7	46					0	0	0.003080	0	0
THSD7A	221981	broad.mit.edu	37	7	11871417	11871417	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:11871417C>A	ENST00000423059.3	-	1	407	c.156G>T	c.(154-156)gaG>gaT	p.E52D		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	52						integral to membrane		p.E52D(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCGCCTCCGCCTCGCCCTGCG	0.697000										HNSCC(18;0.044)			8	9					0.00307968	0.00331145	0.003080	1	0
ARNTL	406	broad.mit.edu	37	11	13378644	13378644	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:13378644G>T	ENST00000389708.3	+	7	576		c.e7+1		ARNTL_ENST00000389707.4_Splice_Site|ARNTL_ENST00000403290.1_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000403482.3_Splice_Site|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like						circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.?(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		AAAATGCAAGGTAAGCTTGGA	0.413000													14	37					4.7546e-09	6.39053e-09	0.028581	1	0
COL3A1	1281	broad.mit.edu	37	2	189868867	189868867	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:189868867C>A	ENST00000304636.3	+	39	2991	c.2821C>A	c.(2821-2823)Cca>Aca	p.P941T	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	941	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.P941T(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCAGGGCCCACCAGTAAGTAA	0.448000													9	27					1.76689e-08	2.30936e-08	0.006214	1	0
NCOR2	9612	broad.mit.edu	37	12	124824595	124824595	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:124824595C>A	ENST00000356219.3	-	38	5820	c.5665G>T	c.(5665-5667)Ggt>Tgt	p.G1889C	NCOR2_ENST00000397355.1_Missense_Mutation_p.G1873C|NCOR2_ENST00000404121.2_Missense_Mutation_p.G1443C|NCOR2_ENST00000429285.2_Missense_Mutation_p.G1872C|NCOR2_ENST00000405201.1_Missense_Mutation_p.G1882C|NCOR2_ENST00000404621.1_Missense_Mutation_p.G1872C	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1893					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.G1889C(1)|p.G1882C(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTGATGATACCCTTCATGCCT	0.662000													33	42					2.20474e-14	3.54867e-14	0.017118	1	0
FNDC3B	64778	broad.mit.edu	37	3	172065099	172065099	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:172065099G>T	ENST00000336824.4	+	21	2561	c.2462G>T	c.(2461-2463)cGt>cTt	p.R821L	FNDC3B_ENST00000416957.1_Missense_Mutation_p.R821L|FNDC3B_ENST00000415807.2_Missense_Mutation_p.R821L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	821	Fibronectin type-III 6.					endoplasmic reticulum|integral to membrane		p.R821L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACAGACACCCGTTTTGAAATA	0.448000													32	77					2.80507e-11	4.10335e-11	0.012213	1	0
RNF44	22838	broad.mit.edu	37	5	175959138	175959138	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:175959138G>A	ENST00000274811.4	-	3	688	c.164C>T	c.(163-165)tCc>tTc	p.S55F	RNF44_ENST00000537487.1_Intron	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	55	Pro-rich.						zinc ion binding	p.S55F(1)		endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGCTGCTGGGAGGGTAAGCG	0.741000													12	8					0	0	0.013537	0	0
COL4A6	1288	broad.mit.edu	37	X	107417735	107417735	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:107417735G>T	ENST00000334504.7	-	31	3306	c.3073C>A	c.(3073-3075)Cgg>Agg	p.R1025R	COL4A6_ENST00000394872.2_Silent_p.R1026R|COL4A6_ENST00000538570.1_Silent_p.R1025R|COL4A6_ENST00000372216.4_Silent_p.R1026R|COL4A6_ENST00000545689.1_Silent_p.R1025R	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1026	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.R1025R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGTAAGCCCCGGATTCCCATG	0.557000									Alport syndrome with Diffuse Leiomyomatosis				13	69					2.27111e-07	2.85394e-07	0.013537	1	0
NOC2L	26155	broad.mit.edu	37	1	880905	880905	+	Silent	SNP	C	C	A	rs149040522		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:880905C>A	ENST00000327044.6	-	17	2095	c.2046G>T	c.(2044-2046)tcG>tcT	p.S682S		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	682	Asp/Glu-rich (acidic).					nucleolus	protein binding	p.S682S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CACCTCTCTCCGAGAATCCCT	0.592000													30	36					2.65835e-16	4.44336e-16	0.007291	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818624	159818624	+	RNA	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:159818624G>T	ENST00000497452.1	-	0	517																											ACGGGCACCGGGGCCCGGTCG	0.692000													13	28					1.5842e-08	2.08101e-08	0.016723	1	0
GRK5	2869	broad.mit.edu	37	10	121203194	121203194	+	Missense_Mutation	SNP	G	G	T	rs143962659	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:121203194G>T	ENST00000392870.2	+	12	1525	c.1196G>T	c.(1195-1197)cGc>cTc	p.R399L	GRK5_ENST00000369108.3_Missense_Mutation_p.R294L	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	399	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.R399L(1)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GAGGTGGACCGCCGGGTCCTG	0.637000													10	35					5.50884e-06	6.60427e-06	0.013537	1	0
EMILIN2	84034	broad.mit.edu	37	18	2847926	2847926	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:2847926T>A	ENST00000254528.3	+	2	413	c.254T>A	c.(253-255)cTg>cAg	p.L85Q		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	85	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.L85Q(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCGTCGGCGCTGGTGTAAGTC	0.657000													7	20					0	0	0.003080	0	0
ERBB4	2066	broad.mit.edu	37	2	212530091	212530091	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:212530091G>T	ENST00000342788.4	-	15	2138	c.1828C>A	c.(1828-1830)Cca>Aca	p.P610T	ERBB4_ENST00000436443.1_Missense_Mutation_p.P610T|ERBB4_ENST00000402597.1_Missense_Mutation_p.P610T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	610	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.P610T(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCCCGATCTGGATCAGCATAC	0.468000										TSP Lung(8;0.080)			20	65					1.96292e-10	2.77792e-10	0.010504	1	0
LHCGR	3973	broad.mit.edu	37	2	48915276	48915276	+	Nonsense_Mutation	SNP	G	G	A	rs121912524		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:48915276G>A	ENST00000294954.7	-	11	1681	c.1660C>T	c.(1660-1662)Cga>Tga	p.R554*	LHCGR_ENST00000344775.3_Nonsense_Mutation_p.R492*|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.R527*|LHCGR_ENST00000401907.1_Missense_Mutation_p.S317L|LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	554					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.R554*(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TCTGGGTTTCGAACTGCAAAA	0.368000													19	98					0	0	0.006122	0	0
ABO	28	broad.mit.edu	37	9	136131636	136131636	+	RNA	SNP	C	C	T	rs8176738		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:136131636C>T	ENST00000453660.2	-	0	492							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	p.R160H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CAGCGTCACGCGGGGCACCGC	0.647000													5	16					0	0	0.014758	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655173	31655173	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:31655173G>T	ENST00000340345.4	-	1	103	c.78C>A	c.(76-78)atC>atA	p.I26I		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	26						keratin filament	structural molecule activity	p.I26I(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AGGTCACTGGGATATAACAGT	0.493000													11	37					6.40141e-05	7.32091e-05	0.010729	1	0
TRAPPC10	7109	broad.mit.edu	37	21	45522796	45522796	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:45522796G>A	ENST00000291574.4	+	22	3659	c.3484G>A	c.(3484-3486)Gtc>Atc	p.V1162I		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1162					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.V1162I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CCTGCCCGACGTCAGGCTGTT	0.557000													23	56					0	0	0.021523	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092781	151092781	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:151092781C>A	ENST00000360243.2	+	3	912	c.645C>A	c.(643-645)gaC>gaA	p.D215E	MAGEA4_ENST00000276344.2_Missense_Mutation_p.D215E|MAGEA4_ENST00000370337.4_Missense_Mutation_p.D215E|MAGEA4_ENST00000370340.3_Missense_Mutation_p.D215E|MAGEA4_ENST00000370335.1_Missense_Mutation_p.D215E|MAGEA4_ENST00000393920.1_Missense_Mutation_p.D215E|MAGEA4_ENST00000393921.1_Missense_Mutation_p.D215E	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	215	MAGE.						protein binding	p.D215E(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGGGCGACAGCGCCTCTG	0.562000													13	121					7.93312e-07	9.80361e-07	0.020292	1	0
JPH2	57158	broad.mit.edu	37	20	42788285	42788285	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:42788285C>A	ENST00000372980.3	-	2	2014	c.1142G>T	c.(1141-1143)cGc>cTc	p.R381L		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	381	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.R381L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCTTCTGGCGCGCGATAGC	0.672000													7	9					0.000157383	0.000176887	0.003080	1	0
ACAN	176	broad.mit.edu	37	15	89398308	89398308	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:89398308C>T	ENST00000439576.2	+	12	2866	c.2492C>T	c.(2491-2493)cCc>cTc	p.P831L	ACAN_ENST00000561243.1_Missense_Mutation_p.P831L|ACAN_ENST00000559004.1_Missense_Mutation_p.P831L|ACAN_ENST00000352105.7_Missense_Mutation_p.P831L	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	831					cell adhesion		hyaluronic acid binding|sugar binding	p.P831L(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGCCATCCCCCTCAGAGGAA	0.632000													5	8					0	0	0.014758	0	0
TSLP	85480	broad.mit.edu	37	5	110407739	110407739	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:110407739C>A	ENST00000420978.2	+	2	1573	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	TSLP_ENST00000344895.3_Missense_Mutation_p.L51M			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	51						extracellular space	cytokine activity	p.L51M(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTCTAAAGACCTGATTACATA	0.358000													28	37					1.80694e-10	2.56763e-10	0.009535	1	0
KRT6B	3854	broad.mit.edu	37	12	52843563	52843563	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:52843563G>T	ENST00000252252.3	-	4	938	c.891C>A	c.(889-891)ttC>ttA	p.F297L		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	297	Coil 1B.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.F297_L298>LM(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		AGGCTCTCAGGAAGTTGATCT	0.502000													43	94					1.62263e-30	3.10532e-30	0.014410	1	0
DSCAM	1826	broad.mit.edu	37	21	42080435	42080435	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:42080435G>T	ENST00000400454.1	-	2	783	c.306C>A	c.(304-306)tgC>tgA	p.C102*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	102	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.C102*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTCAGCTGTGCAATAATAAG	0.478000													34	92					9.8876e-21	1.75387e-20	0.021022	1	0
GPC4	2239	broad.mit.edu	37	X	132473343	132473343	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:132473343C>A	ENST00000370828.3	-	2	711	c.187G>T	c.(187-189)Ggt>Tgt	p.G63C	GPC4_ENST00000535467.1_5'UTR	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	63					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.G63C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CAGGTAGAACCCTGGGGACAG	0.423000													41	28					9.88483e-10	1.36555e-09	0.007835	1	0
PBX2	5089	broad.mit.edu	37	6	32155933	32155933	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:32155933C>A	ENST00000375050.4	-	4	814	c.543_splice	c.e4-1	p.A182_splice		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	182							transcription factor binding	p.?(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TCATTACATGCCTGTAGTGGG	0.602000													11	21					0.000673444	0.000740931	0.008291	1	0
MADD	8567	broad.mit.edu	37	11	47345865	47345865	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:47345865C>T	ENST00000342922.4	+	29	4772	c.4415C>T	c.(4414-4416)gCc>gTc	p.A1472V	MADD_ENST00000405573.2_Missense_Mutation_p.A341V|MADD_ENST00000402799.1_Missense_Mutation_p.A1429V|MADD_ENST00000406482.1_Missense_Mutation_p.A1429V|MADD_ENST00000311027.5_Missense_Mutation_p.A1531V|MADD_ENST00000395336.3_Missense_Mutation_p.A1531V|MADD_ENST00000349238.3_Missense_Mutation_p.A1492V|MADD_ENST00000395344.3_Missense_Mutation_p.A1425V|MADD_ENST00000402192.2_Missense_Mutation_p.A1471V|MADD_ENST00000407859.3_Missense_Mutation_p.A1449V	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1531					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.A1531V(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CGCGCTGCCGCCCGACAGCAA	0.587000													10	17					0	0	0.008291	0	0
TRMT44	152992	broad.mit.edu	37	4	8467229	8467229	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:8467229G>T	ENST00000389737.4	+	8	1435	c.1435G>T	c.(1435-1437)Ggc>Tgc	p.G479C	TRMT44_ENST00000513449.2_Missense_Mutation_p.G238C	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)									p.G87C(1)|p.G479C(1)									TAAAGAAGTGGGCTTCACCTG	0.488000													38	57					3.66854e-30	7.00786e-30	0.007835	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768313	77768313	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:77768313G>T	ENST00000521891.2	+	10	9604	c.9156G>T	c.(9154-9156)ccG>ccT	p.P3052P	ZFHX4_ENST00000455469.2_Silent_p.P3007P|ZFHX4_ENST00000050961.6_Silent_p.P3007P|ZFHX4_ENST00000518282.1_Silent_p.P3026P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3007	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P3036P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTGGCTCCGACCACGGTTC	0.507000										HNSCC(33;0.089)			17	83					1.00905e-13	1.59945e-13	0.008871	1	0
SUN1	23353	broad.mit.edu	37	7	883154	883154	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:883154A>T	ENST00000456758.2	+	8	829	c.829A>T	c.(829-831)Aaa>Taa	p.K277*	SUN1_ENST00000405266.1_Nonsense_Mutation_p.K219*|SUN1_ENST00000401592.1_Nonsense_Mutation_p.K219*|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000389574.3_Nonsense_Mutation_p.K169*|SUN1_ENST00000403868.1_Nonsense_Mutation_p.K219*|SUN1_ENST00000425407.2_Nonsense_Mutation_p.K169*|SUN1_ENST00000457378.2_Nonsense_Mutation_p.K240*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	219	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	p.K219*(1)|p.K240*(1)|p.K169*(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGAATCAAAAATGTAAGTC	0.488000													19	321					0	0	0.021523	0	0
TLR8	51311	broad.mit.edu	37	X	12937852	12937852	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:12937852C>G	ENST00000218032.6	+	2	780	c.693C>G	c.(691-693)aaC>aaG	p.N231K	TLR8_ENST00000311912.5_Missense_Mutation_p.N249K	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	231					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.N249K(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCTGAGCAACACCCAGATCA	0.408000													19	103					0	0	0.008871	0	0
KCND2	3751	broad.mit.edu	37	7	119915119	119915119	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:119915119G>T	ENST00000331113.4	+	1	1398	c.433G>T	c.(433-435)Gcc>Tcc	p.A145S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	145					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.A145S(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCGAGAGAACGCCGAGCGCCT	0.602000													364	95					2.86298e-183	5.73146e-183	0.014410	1	0
GBP6	163351	broad.mit.edu	37	1	89847391	89847391	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:89847391A>T	ENST00000370456.4	+	7	1103	c.1010A>T	c.(1009-1011)cAg>cTg	p.Q337L	GBP6_ENST00000535065.1_Missense_Mutation_p.Q207L	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	337							GTP binding|GTPase activity	p.Q337L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TACAGCCAGCAGATGGCCCAG	0.587000													4	36					0	0	0.001984	0	0
OR5K1	26339	broad.mit.edu	37	3	98188804	98188804	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:98188804C>A	ENST00000332650.5	+	1	481	c.384C>A	c.(382-384)aaC>aaA	p.N128K		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N128K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCATATGCAACCCACTGCAGT	0.468000													55	51					1.39843e-22	2.54105e-22	0.014410	1	0
KCNE1L	23630	broad.mit.edu	37	X	108867952	108867952	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:108867952C>T	ENST00000372101.2	-	1	441	c.298G>A	c.(298-300)Gag>Aag	p.E100K	RP1-136J15.3_ENST00000439581.1_RNA	NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	100					regulation of heart contraction	voltage-gated potassium channel complex		p.E100K(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CATTCGTGCTCGGCGCAAGCC	0.731000													3	11					0	0	0.004672	0	0
DCDC1	341019	broad.mit.edu	37	11	30942459	30942459	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:30942459C>G	ENST00000597505.1	-	23	3156	c.3157G>C	c.(3157-3159)Gac>Cac	p.D1053H	DCDC1_ENST00000339794.5_Missense_Mutation_p.D132H|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.D132H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GATACAATGTCACTTTGGACT	0.368000													4	15					0	0	0.014758	0	0
PRSS37	136242	broad.mit.edu	37	7	141536247	141536247	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:141536247G>T	ENST00000350549.3	-	5	1027	c.656C>A	c.(655-657)aCc>aAc	p.T219N	PRSS37_ENST00000438520.1_Missense_Mutation_p.T219N	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	219	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.T219N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTAAACATTGGTGTAGATGCC	0.517000													21	43					2.21704e-12	3.3708e-12	0.016522	1	0
HDAC6	10013	broad.mit.edu	37	X	48663850	48663850	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:48663850C>G	ENST00000334136.5	+	5	495	c.317C>G	c.(316-318)cCg>cGg	p.P106R	HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000413163.2_Missense_Mutation_p.P51R|HDAC6_ENST00000376619.2_Missense_Mutation_p.P106R|HDAC6_ENST00000444343.2_Missense_Mutation_p.P120R			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	106	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.P106R(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCCAGCTTCCCGGAAGGCCCT	0.592000													6	9					0	0	0.004482	0	0
MGAM	8972	broad.mit.edu	37	7	141750516	141750516	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:141750516T>C	ENST00000475668.2	+	24	2711	c.2657T>C	c.(2656-2658)aTt>aCt	p.I886T	MGAM_ENST00000549489.2_Missense_Mutation_p.I886T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	886	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.I886T(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGGTGAATATTTCACAATCA	0.363000													19	30					0	0	0.010504	0	0
PI4KA	5297	broad.mit.edu	37	22	21147516	21147516	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:21147516C>T	ENST00000255882.6	-	19	2379	c.2293G>A	c.(2293-2295)Ggg>Agg	p.G765R	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000572273.1_Missense_Mutation_p.G707R	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	707					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.G707R(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCCAAGTTCCCTGCACTGCTA	0.333000													6	473					0	0	0.001984	0	0
EPAS1	2034	broad.mit.edu	37	2	46574200	46574200	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:46574200C>T	ENST00000263734.3	+	2	725	c.215C>T	c.(214-216)tCa>tTa	p.S72L	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	72					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.S72L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCCTCTCCTCAGGTAAGGCC	0.587000													13	60					0	0	0.016723	0	0
MUC16	94025	broad.mit.edu	37	19	9060278	9060278	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:9060278G>T	ENST00000397910.4	-	3	27371	c.27168C>A	c.(27166-27168)gaC>gaA	p.D9056E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9058	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D9056E(1)|p.D4689E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTGGATATGTCTTGTGACA	0.493000													28	38					1.39806e-14	2.26073e-14	0.008361	1	0
AIG1	51390	broad.mit.edu	37	6	143605319	143605319	+	Nonsense_Mutation	SNP	G	G	T	rs115165047	by1000genomes	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:143605319G>T	ENST00000357847.4	+	4	522	c.472G>T	c.(472-474)Gga>Tga	p.G158*	AIG1_ENST00000344492.5_Nonsense_Mutation_p.G106*|AIG1_ENST00000275235.4_Nonsense_Mutation_p.G158*	NM_016108.2	NP_057192.2	Q9NVV5	AIG1_HUMAN	androgen-induced 1	158						integral to membrane		p.G158*(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		CAGGAGCAGCGGACTTACCGC	0.443000													10	27					3.07112e-06	3.72462e-06	0.010729	1	0
LRP2	4036	broad.mit.edu	37	2	170042416	170042416	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:170042416G>T	ENST00000263816.3	-	50	9727	c.9442C>A	c.(9442-9444)Cgg>Agg	p.R3148R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3148	EGF-like 11.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R3148R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACACAAGTCCGCTTGTCAGAC	0.468000													37	72					2.05212e-20	3.62773e-20	0.023175	1	0
ABCC12	94160	broad.mit.edu	37	16	48138053	48138053	+	Splice_Site	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:48138053C>G	ENST00000311303.3	-	20	3245	c.2900_splice	c.e20+1	p.R967_splice	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	967	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R967P(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGGGCCTACCGTAACAGAAT	0.458000													14	16					0	0	0.020292	0	0
DLG4	1742	broad.mit.edu	37	17	7095235	7095235	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:7095235G>C	ENST00000399510.2	-	20	2934	c.2082C>G	c.(2080-2082)cgC>cgG	p.R694R	DLG4_ENST00000302955.6_Silent_p.R648R|DLG4_ENST00000399506.2_Silent_p.R651R	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	651	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	p.R694R(1)|p.R648R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GGGAGCGGGGGCGGATGAAGA	0.672000													4	96					0	0	0.009096	0	0
ABCA6	23460	broad.mit.edu	37	17	67130881	67130881	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:67130881G>T	ENST00000284425.2	-	5	637	c.463C>A	c.(463-465)Cat>Aat	p.H155N		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	155					transport	integral to membrane	ATP binding|ATPase activity	p.H155N(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCCCAGCAATGAGCTGTAAGC	0.383000													17	49					1.33834e-09	1.82469e-09	0.007413	1	0
LRP1	4035	broad.mit.edu	37	12	57572802	57572802	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:57572802A>G	ENST00000243077.3	+	28	5202	c.4736A>G	c.(4735-4737)tAt>tGt	p.Y1579C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1579	EGF-like 7.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.Y1579C(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCACCTGCTATGGTAGGAGC	0.632000													40	77					0	0	0.009718	0	0
UBASH3A	53347	broad.mit.edu	37	21	43863444	43863444	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:43863444C>A	ENST00000319294.6	+	13	1685	c.1654C>A	c.(1654-1656)Ctc>Atc	p.L552I	UBASH3A_ENST00000291535.6_Missense_Mutation_p.L514I|UBASH3A_ENST00000398367.1_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	552	Phosphatase-like.					cytosol|nucleus		p.L552I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CCTGTCCGCCCTCATGCCGGC	0.597000													9	19					7.48243e-07	9.27964e-07	0.006214	1	0
ZFAND1	79752	broad.mit.edu	37	8	82627319	82627319	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:82627319C>A	ENST00000220669.5	-	4	187	c.169G>T	c.(169-171)Gat>Tat	p.D57Y	ZFAND1_ENST00000522520.1_5'UTR|ZFAND1_ENST00000519523.1_Missense_Mutation_p.D57Y|ZFAND1_ENST00000521287.1_5'UTR|ZFAND1_ENST00000523096.1_Missense_Mutation_p.D57Y|ZFAND1_ENST00000521895.1_5'UTR|ZFAND1_ENST00000517588.1_5'UTR	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	57							zinc ion binding	p.D57Y(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GTATGTTGATCTGTCTTCAGT	0.368000													10	40					6.40141e-05	7.32091e-05	0.010729	1	0
GLI1	2735	broad.mit.edu	37	12	57864471	57864471	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:57864471G>T	ENST00000228682.2	+	12	2039	c.1948G>T	c.(1948-1950)Gct>Tct	p.A650S	GLI1_ENST00000543426.1_Missense_Mutation_p.A522S|GLI1_ENST00000546141.1_Missense_Mutation_p.A609S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	650					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.A650S(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGACCGTCCTGCTCCAGCTAG	0.612000													11	41					3.86212e-05	4.45596e-05	0.008291	1	0
ADRA1D	146	broad.mit.edu	37	20	4202212	4202212	+	Nonsense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:4202212G>C	ENST00000379453.4	-	2	1793	c.1677C>G	c.(1675-1677)taC>taG	p.Y559*		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	559				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	p.Y559*(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CGGCCAATTCGTAGGCCTGGC	0.667000													6	31					0	0	0.021553	0	0
PDZD8	118987	broad.mit.edu	37	10	119044326	119044326	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:119044326C>A	ENST00000334464.5	-	5	2157	c.1918G>T	c.(1918-1920)Gat>Tat	p.D640Y	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	640					intracellular signal transduction		metal ion binding	p.D640Y(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTATGGCATCCACATTTTTT	0.448000													9	60					5.4927e-09	7.33533e-09	0.004482	1	0
MIS18A	54069	broad.mit.edu	37	21	33651133	33651133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:33651133C>A	ENST00000290130.3	-	1	247	c.193G>T	c.(193-195)Gag>Tag	p.E65*	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	65					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		p.E65*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TGCGCCCTCTCCATGTCGGCC	0.692000													4	4					0.00909568	0.00959231	0.009096	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117431569	117431569	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:117431569G>T	ENST00000160373.3	-	4	1772	c.1681C>A	c.(1681-1683)Ccc>Acc	p.P561T		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	561	Pro-rich.							p.P561T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTGAGTTGGGGGTGTGGTGGA	0.502000													158	411					2.01345e-68	4.01535e-68	0.014410	1	0
MAGEA11	4110	broad.mit.edu	37	X	148798268	148798268	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:148798268G>T	ENST00000355220.5	+	5	1224	c.1122G>T	c.(1120-1122)gtG>gtT	p.V374V	MAGEA11_ENST00000333104.4_Silent_p.V345V	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	374	MAGE.					cytoplasm|nucleus	protein binding	p.V374V(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACCGGCAGGTGCCCGGCACTG	0.552000													139	118					4.74804e-72	9.48699e-72	0.014410	1	0
APOL6	80830	broad.mit.edu	37	22	36055359	36055359	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:36055359G>T	ENST00000409652.3	+	3	1024	c.748G>T	c.(748-750)Gcc>Tcc	p.A250S		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	250					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	p.A250S(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CTATGACTTGGCCACTCTCTC	0.542000													9	38					5.4927e-09	7.33533e-09	0.004482	1	0
TEP1	7011	broad.mit.edu	37	14	20876106	20876106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:20876106C>A	ENST00000262715.5	-	2	533	c.493G>T	c.(493-495)Gga>Tga	p.G165*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.G165*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	165					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.G165*(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGTCTAGTCCCTTAGAGAAA	0.488000													63	165					2.60599e-31	5.02412e-31	0.014410	1	0
ZNF676	163223	broad.mit.edu	37	19	22363512	22363512	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:22363512G>T	ENST00000397121.2	-	3	1324	c.1007C>A	c.(1006-1008)cCc>cAc	p.P336H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P336H(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTGTAGGGTTTCTCTCC	0.413000													18	42					2.94398e-08	3.82865e-08	0.007413	1	0
VWA7	80737	broad.mit.edu	37	6	31735274	31735274	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:31735274C>G	ENST00000375686.3	-	12	1891	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.E552Q|VWA7_ENST00000447450.1_Missense_Mutation_p.E552Q	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	552						extracellular region		p.E552Q(1)									CCGCCTTCCTCCTGGCCCTGG	0.592000													53	151					0	0	0.014410	0	0
KEAP1	9817	broad.mit.edu	37	19	10610293	10610293	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:10610293G>T	ENST00000171111.5	-	2	964	c.417C>A	c.(415-417)ttC>ttA	p.F139L	KEAP1_ENST00000393623.2_Missense_Mutation_p.F139L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	139	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.F139L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCGTGTAGGCGAATTCAATGA	0.582000													10	16					7.48243e-07	9.27964e-07	0.006214	1	0
SHANK1	50944	broad.mit.edu	37	19	51220046	51220046	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:51220046C>A	ENST00000293441.1	-	1	149	c.131G>T	c.(130-132)gGc>gTc	p.G44V	SHANK1_ENST00000391814.1_Missense_Mutation_p.G44V|SHANK1_ENST00000359082.3_Missense_Mutation_p.G44V	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	44					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.G44V(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TGCCCCACTGCCCTGGCCCCG	0.682000													5	22					0.000602214	0.00066537	0.014758	1	0
ATP10D	57205	broad.mit.edu	37	4	47556860	47556860	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:47556860A>G	ENST00000273859.3	+	11	2022	c.1753A>G	c.(1753-1755)Atc>Gtc	p.I585V		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	585					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.I585V(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTTGTACATTATCGACTTTTT	0.413000													6	131					0	0	0.001984	0	0
P2RX6	9127	broad.mit.edu	37	22	21380577	21380577	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:21380577G>T	ENST00000413302.2	+	11	1235	c.1087G>T	c.(1087-1089)Gat>Tat	p.D363Y	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000336296.2_Missense_Mutation_p.D353Y|P2RX6_ENST00000401443.1_Missense_Mutation_p.D337Y|P2RX6_ENST00000443995.3_Missense_Mutation_p.D310Y			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	363					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.D353Y(1)									GCTGTATGTGGATAGAGAAGC	0.572000													7	97					5.68852e-11	8.19493e-11	0.004482	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84609573	84609573	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:84609573T>A	ENST00000344803.2	+	4	4235	c.4188T>A	c.(4186-4188)ttT>ttA	p.F1396L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.F1396L(2)									GAGCTGCCTTTACTGGGACTA	0.453000													7	8					0	0	0.003080	0	0
EZH2	2146	broad.mit.edu	37	7	148508784	148508784	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:148508784G>T	ENST00000320356.2	-	16	2001	c.1880C>A	c.(1879-1881)gCa>gAa	p.A627E	EZH2_ENST00000350995.2_Missense_Mutation_p.A583E|EZH2_ENST00000460911.1_Missense_Mutation_p.A622E|EZH2_ENST00000476773.1_Missense_Mutation_p.A571E|EZH2_ENST00000478654.1_Missense_Mutation_p.A571E|EZH2_ENST00000541220.1_Missense_Mutation_p.A571E|EZH2_ENST00000483967.1_Missense_Mutation_p.A613E	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	622	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.A627E(1)|p.A583E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CCCCCAGCCTGCCACGTCAGA	0.428000			Mis		DLBCL								10	38					0.00621372	0.00659299	0.006214	1	0
OR13C8	138802	broad.mit.edu	37	9	107331807	107331807	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:107331807T>A	ENST00000335040.1	+	1	359	c.359T>A	c.(358-360)cTg>cAg	p.L120Q		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L120Q(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ACGATGGCACTGGACCGCTAT	0.527000													20	25					0	0	0.008871	0	0
IGSF10	285313	broad.mit.edu	37	3	151156246	151156246	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:151156246G>A	ENST00000282466.3	-	6	6102	c.6103C>T	c.(6103-6105)Ctg>Ttg	p.L2035L	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2035					cell differentiation|multicellular organismal development|ossification	extracellular region		p.L2035L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGGTTTCAGTCTTAGGCTA	0.433000													30	133					0	0	0.008361	0	0
OPLAH	26873	broad.mit.edu	37	8	145113227	145113227	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:145113227C>G	ENST00000426825.1	-	7	945	c.864G>C	c.(862-864)tcG>tcC	p.S288S	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	288							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	p.S288S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGGCCGGGCCCGAGAGCACAG	0.682000													7	6					0	0	0.003080	0	0
IGDCC4	57722	broad.mit.edu	37	15	65702614	65702614	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:65702614C>A	ENST00000352385.2	-	3	674	c.465G>T	c.(463-465)gaG>gaT	p.E155D		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	155	Ig-like C2-type 2.					integral to membrane|plasma membrane		p.E155_E156>D*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCCCGTTCTCCTCCACCGTCT	0.577000													9	37					3.09899e-07	3.88491e-07	0.004482	1	0
HERPUD2	64224	broad.mit.edu	37	7	35733802	35733802	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:35733802T>C	ENST00000396081.1	-	1	943	c.139A>G	c.(139-141)Agc>Ggc	p.S47G	HERPUD2_ENST00000311350.3_Missense_Mutation_p.S47G	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	47	Ubiquitin-like.				response to unfolded protein	integral to membrane		p.S47G(1)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						ACTGGTTTGCTAGGGTAAACG	0.478000													28	136					0	0	0.015359	0	0
COL25A1	84570	broad.mit.edu	37	4	109895542	109895542	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:109895542T>A	ENST00000399132.1	-	8	1003	c.473A>T	c.(472-474)cAa>cTa	p.Q158L	COL25A1_ENST00000399126.1_Missense_Mutation_p.Q158L|COL25A1_ENST00000399127.1_Missense_Mutation_p.Q158L	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	158	Collagen-like 1.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.Q158L(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTGATCACCTTGTTCTCCCTG	0.373000													27	59					0	0	0.010818	0	0
XIRP2	129446	broad.mit.edu	37	2	168107344	168107344	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:168107344G>A	ENST00000409195.1	+	9	9531	c.9442G>A	c.(9442-9444)Gac>Aac	p.D3148N	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2926N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D3148N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2973					actin cytoskeleton organization	cell junction	actin binding	p.D3148N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCCTAAAAAGGACAGTTATGT	0.468000													23	66					0	0	0.018920	0	0
NR1I2	8856	broad.mit.edu	37	3	119533825	119533825	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:119533825G>T	ENST00000393716.2	+	6	2633		c.e6-1		NR1I2_ENST00000337940.4_Splice_Site|NR1I2_ENST00000466380.1_Splice_Site	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2						drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.?(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CTTGCTGCCAGGGACTTGCCC	0.602000													14	42					3.27435e-08	4.25299e-08	0.020292	1	0
WRN	7486	broad.mit.edu	37	8	30921859	30921859	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:30921859A>T	ENST00000298139.5	+	4	513	c.264A>T	c.(262-264)ttA>ttT	p.L88F		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	88	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.L88F(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GGCCACCATTATACAATAGAG	0.368000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				37	112					0	0	0.008740	0	0
ARID1A	8289	broad.mit.edu	37	1	27100358	27100358	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:27100358A>T	ENST00000324856.7	+	17	4441	c.4070A>T	c.(4069-4071)cAg>cTg	p.Q1357L	ARID1A_ENST00000457599.2_Missense_Mutation_p.Q1357L|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q974L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1357	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q1357L(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCCCCAGCCAGCAGACTACA	0.502000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								69	151					0	0	0.014410	0	0
IRF6	3664	broad.mit.edu	37	1	209974728	209974728	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:209974728T>A	ENST00000367021.3	-	3	203	c.31A>T	c.(31-33)Aag>Tag	p.K11*	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	11					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K11*(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGCCAGGGCTTTAGCCGGACT	0.597000										HNSCC(57;0.16)			41	64					0	0	0.010771	0	0
CSMD3	114788	broad.mit.edu	37	8	113563004	113563004	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:113563004C>A	ENST00000297405.5	-	27	4704	c.4460G>T	c.(4459-4461)gGa>gTa	p.G1487V	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1487V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1447V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1383V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1487	CUB 8.					integral to membrane|plasma membrane		p.G1447V(1)|p.G1487V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATAAGAGATCCACTAATTTC	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	35					1.74807e-11	2.56433e-11	0.010818	1	0
MCM6	4175	broad.mit.edu	37	2	136623838	136623838	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:136623838G>C	ENST00000264156.2	-	6	851	c.791C>G	c.(790-792)gCa>gGa	p.A264G		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	264					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	p.A264G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	ATTAGTTTCTGCACGTGCTCC	0.413000													5	192					0	0	0.001984	0	0
GNG2	54331	broad.mit.edu	37	14	52433353	52433353	+	Missense_Mutation	SNP	C	C	T	rs139067662	by1000genomes	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:52433353C>T	ENST00000335281.4	+	3	570	c.164C>T	c.(163-165)cCg>cTg	p.P55L	GNG2_ENST00000555472.1_Missense_Mutation_p.P55L|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000557376.1_Missense_Mutation_p.P94L|GNG2_ENST00000556752.1_Missense_Mutation_p.P55L|GNG2_ENST00000553432.1_Missense_Mutation_p.P86L|GNG2_ENST00000554736.1_Missense_Mutation_p.P55L|GNG2_ENST00000556766.1_Missense_Mutation_p.P55L	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	55					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	p.P55L(2)		lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	ACCCCTGTTCCGGCTTCAGAA	0.527000													37	99					0	0	0.023175	0	0
PDPN	10630	broad.mit.edu	37	1	13936946	13936946	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:13936946C>G	ENST00000294489.6	+	3	835	c.494C>G	c.(493-495)aCa>aGa	p.T165R	PDPN_ENST00000376061.4_Missense_Mutation_p.T47R|PDPN_ENST00000475043.1_Missense_Mutation_p.T47R|PDPN_ENST00000376057.4_Missense_Mutation_p.T165R|PDPN_ENST00000509009.1_Missense_Mutation_p.T84R|PDPN_ENST00000513143.1_Missense_Mutation_p.T47R|PDPN_ENST00000487038.1_Missense_Mutation_p.T47R			Q86YL7	PDPN_HUMAN	podoplanin	89					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		p.T165R(1)		endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TCAGAAAGCACAGTCCACGCG	0.502000													9	49					0	0	0.004482	0	0
IL21R	50615	broad.mit.edu	37	16	27460516	27460516	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:27460516C>A	ENST00000337929.3	+	9	2002	c.1529C>A	c.(1528-1530)cCc>cAc	p.P510H	IL21R_ENST00000564089.1_Missense_Mutation_p.P510H|IL21R_ENST00000395755.1_Missense_Mutation_p.P510H|IL21R_ENST00000395754.4_Missense_Mutation_p.P510H|IL21R-AS1_ENST00000563191.1_RNA	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	510					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.P510H(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TTCACCAGCCCCGGGGACGAA	0.652000			T	BCL6	NHL								7	55					0.00198382	0.00214417	0.001984	1	0
FTH1P10	2502	broad.mit.edu	37	5	17353917	17353917	+	RNA	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:17353917C>T	ENST00000401830.3	-	0	816					NR_002201.1																						GAAACCCCAACATGCATGCAC	0.438000													3	8					0	0	0.004672	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077590	32077590	+	RNA	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:32077590A>T	ENST00000354689.6	+	0	205				RP11-1166P10.6_ENST00000566806.1_RNA																							AGGCCGATTCACCATCTCCAG	0.517000													56	431					0	0	0.014410	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596643	11596643	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:11596643T>C	ENST00000294484.6	+	21	4217	c.4079T>C	c.(4078-4080)cTg>cCg	p.L1360P	PTCHD2_ENST00000389575.3_Missense_Mutation_p.L1360P|PTCHD2_ENST00000304391.6_Silent_p.P246P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1360					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.L1577P(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCAAGGCCCTGGGTGCCGTG	0.672000													5	14					0	0	0.001984	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596647	11596647	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:11596647T>G	ENST00000304391.6	+	5	860	c.742T>G	c.(742-744)Tgc>Ggc	p.C248G	PTCHD2_ENST00000294484.6_Silent_p.G1361G|PTCHD2_ENST00000389575.3_Silent_p.G1361G			Q9P2K9	PTHD2_HUMAN	patched domain containing 2	0					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.G1578G(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGGCCCTGGGTGCCGTGCTGC	0.672000													4	11					0	0	0.021553	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443936	5443936	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:5443936C>A	ENST00000300778.4	+	1	596	c.506C>A	c.(505-507)cCt>cAt	p.P169H	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P169H(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCGACTGCCTTTCTGCCAC	0.512000													63	131					3.00063e-23	5.50995e-23	0.014410	1	0
DOCK1	1793	broad.mit.edu	37	10	128824628	128824628	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:128824628A>T	ENST00000280333.6	+	16	1610	c.1501A>T	c.(1501-1503)Atc>Ttc	p.I501F	RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000432554.2_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	501	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.I501F(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGCCATTCCCATCGAGGACGT	0.438000													2	4					0	0	0.004672	0	0
PKHD1	5314	broad.mit.edu	37	6	51944753	51944753	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:51944753C>A	ENST00000371117.3	-	5	610	c.335G>T	c.(334-336)gGg>gTg	p.G112V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G112V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	112					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.G112V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGCTGTCCCCCGAAGTATGC	0.463000													78	82					2.22156e-40	4.36362e-40	0.014410	1	0
SPINK13	153218	broad.mit.edu	37	5	147661755	147661755	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:147661755A>C	ENST00000512953.1	+	5	728	c.197A>C	c.(196-198)cAc>cCc	p.H66P	SPINK13_ENST00000511106.1_Missense_Mutation_p.H26P|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000398450.4_Missense_Mutation_p.H66P			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	66	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity	p.H66P(1)		breast(2)|lung(3)	5						TCAAATGGCCACACTTTCCAG	0.403000													3	77					0	0	0.004672	0	0
COL1A1	1277	broad.mit.edu	37	17	48272811	48272811	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:48272811C>A	ENST00000225964.5	-	18	1302	c.1184G>T	c.(1183-1185)gGt>gTt	p.G395V		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	395	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.G395V(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCTTTAGCACCAGGCTGTCC	0.582000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	75					7.07596e-05	8.06582e-05	0.006122	1	0
HDAC2	3066	broad.mit.edu	37	6	114279812	114279812	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:114279812C>A	ENST00000519065.1	-	3	660		c.e3+1		HDAC2_ENST00000398283.2_Splice_Site|HDAC2_ENST00000368632.2_Splice_Site|HDAC2_ENST00000519108.1_Splice_Site			Q92769	HDAC2_HUMAN	histone deacetylase 2						blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	TAGAAACGTACATCTCTGCAT	0.313000													18	44					1.33834e-09	1.82469e-09	0.007413	1	0
FASTKD5	60493	broad.mit.edu	37	20	3127960	3127960	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:3127960C>A	ENST00000380266.3	-	2	2078	c.1757G>T	c.(1756-1758)cGa>cTa	p.R586L	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	586					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.R586L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GTCAGAAGATCGGGTATGAGG	0.448000													35	86					4.65686e-17	7.88492e-17	0.017118	1	0
PAOX	196743	broad.mit.edu	37	10	135204895	135204895	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:135204895G>T	ENST00000278060.5	+	7	1555	c.1472G>T	c.(1471-1473)aGg>aTg	p.R491M	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.E438D|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.E30D	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	629					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	p.R491M(1)|p.E438D(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TCGGGATGGAGGGAGGCCGAC	0.657000													15	72					1.52009e-12	2.32471e-12	0.024245	1	0
NOC2L	26155	broad.mit.edu	37	1	889421	889421	+	Missense_Mutation	SNP	C	C	A	rs3828050		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:889421C>A	ENST00000327044.6	-	7	789	c.740G>T	c.(739-741)cGt>cTt	p.R247L		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	247						nucleolus	protein binding	p.R247L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GATGTCCACACGAAGCTTCCC	0.647000													25	51					7.33532e-06	8.76373e-06	0.021523	1	0
PCNXL2	80003	broad.mit.edu	37	1	233394783	233394783	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:233394783C>A	ENST00000258229.8	-	5	1059	c.825G>T	c.(823-825)ccG>ccT	p.P275P	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	275						integral to membrane		p.P275P(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CACTCCCCCACGGCTGGAAAG	0.522000													28	19					1.42536e-11	2.09387e-11	0.024334	1	0
SNX29	92017	broad.mit.edu	37	16	12145987	12145987	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:12145987C>T	ENST00000566228.1	+	8	1101	c.1032C>T	c.(1030-1032)agC>agT	p.S344S		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0	PX.				cell communication		phosphatidylinositol binding	p.S344S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ATGTGAAAAGCATCGATGATG	0.478000													20	130					0	0	0.007413	0	0
CACNA1F	778	broad.mit.edu	37	X	49063081	49063081	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:49063081C>A	ENST00000376265.2	-	46	5457	c.5396G>T	c.(5395-5397)cGg>cTg	p.R1799L	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1788L|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1734L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1799					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R1799L(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GGAGGGCTTCCGACCTGGGGG	0.612000													7	33					0.000274275	0.000304978	0.004482	1	0
GTF3C1	2975	broad.mit.edu	37	16	27544624	27544624	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:27544624C>T	ENST00000356183.4	-	5	852	c.837G>A	c.(835-837)ctG>ctA	p.L279L	GTF3C1_ENST00000561623.1_Silent_p.L279L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	279						transcription factor TFIIIC complex	DNA binding|protein binding	p.L279L(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTCTTCCCTCAGCTTTCCCA	0.547000													13	70					0	0	0.004990	0	0
GPR142	350383	broad.mit.edu	37	17	72368433	72368433	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:72368433C>G	ENST00000335666.4	+	4	1131	c.1083C>G	c.(1081-1083)ggC>ggG	p.G361G		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	361						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.G361G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TCCTCCTGGGCATCACCACAC	0.662000													33	35					0	0	0.015359	0	0
C3orf20	84077	broad.mit.edu	37	3	14799156	14799156	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:14799156G>T	ENST00000253697.3	+	13	2671	c.2219G>T	c.(2218-2220)cGg>cTg	p.R740L	C3orf20_ENST00000435614.1_Missense_Mutation_p.R618L|C3orf20_ENST00000412910.1_Missense_Mutation_p.R618L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	740						cytoplasm|integral to membrane		p.R740L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CACCAGCAGCGGGGCCGTGGC	0.637000													10	11					0.000978159	0.00107166	0.010729	1	0
DHTKD1	55526	broad.mit.edu	37	10	12131102	12131102	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:12131102C>T	ENST00000263035.4	+	5	897	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	279					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.L279F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GCACCATCCCCTCCATGTGAC	0.597000													19	53					0	0	0.007413	0	0
OR4A5	81318	broad.mit.edu	37	11	51411781	51411781	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:51411781C>A	ENST00000319760.6	-	1	667	c.615G>T	c.(613-615)atG>atT	p.M205I		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M205I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGAAAATGACCATACAGATTG	0.433000													11	42					1.08611e-07	1.38485e-07	0.010729	1	0
CASS4	57091	broad.mit.edu	37	20	55012264	55012264	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:55012264T>A	ENST00000371336.3	+	2	282	c.81T>A	c.(79-81)tcT>tcA	p.S27S	CASS4_ENST00000360314.3_Silent_p.S27S|CASS4_ENST00000434344.1_Silent_p.S27S	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	27	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.S27S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGACTGCTCTGACGAGCTGG	0.572000													4	133					0	0	0.014758	0	0
ZNF423	23090	broad.mit.edu	37	16	49670412	49670412	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:49670412G>T	ENST00000561648.1	-	4	2704	c.2651C>A	c.(2650-2652)cCc>cAc	p.P884H	ZNF423_ENST00000563137.2_Missense_Mutation_p.P824H|ZNF423_ENST00000562871.1_Missense_Mutation_p.P824H|ZNF423_ENST00000535559.1_Missense_Mutation_p.P767H|ZNF423_ENST00000562520.1_Missense_Mutation_p.P824H|ZNF423_ENST00000567169.1_Missense_Mutation_p.P767H|ZNF423_ENST00000262383.2_Missense_Mutation_p.P884H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	884					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P884H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCCGTACATGGGCTCCGACGC	0.612000													16	54					1.15088e-07	1.45852e-07	0.028581	1	0
MALAT1	378938	broad.mit.edu	37	11	65270747	65270747	+	RNA	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:65270747T>A	ENST00000534336.1	+	0	5515					NR_002819.2																						ATATCAACCATGGCACTTTCT	0.403000													7	12					0	0	0.003080	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122004483	122004483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:122004483G>A	ENST00000263707.5	-	6	665	c.568C>T	c.(568-570)Cga>Tga	p.R190*		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	190					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R190*(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					ATCTGGACTCGAAAGGGCACT	0.567000													14	47					0	0	0.016723	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823948	38823948	+	Missense_Mutation	SNP	C	C	A	rs147603955	by1000genomes	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:38823948C>A	ENST00000303592.3	-	2	448	c.190G>T	c.(190-192)Gcg>Tcg	p.A64S		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	64					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	p.A64S(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AGGAAGGCCGCGGAGAAGATC	0.617000													27	41					1.77063e-15	2.91288e-15	0.027356	1	0
ECM2	1842	broad.mit.edu	37	9	95263280	95263280	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:95263280G>T	ENST00000344604.5	-	9	1809	c.1660C>A	c.(1660-1662)Cta>Ata	p.L554I	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.L532I	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	554					cell-matrix adhesion		integrin binding	p.L554I(1)|p.L532I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GACTTGGGTAGATAGGACGGG	0.473000													33	37					4.74835e-14	7.59591e-14	0.010818	1	0
SLC14A2	8170	broad.mit.edu	37	18	43204724	43204724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:43204724C>A	ENST00000255226.6	+	2	911	c.95C>A	c.(94-96)tCg>tAg	p.S32*	SLC14A2_ENST00000586448.1_Nonsense_Mutation_p.S32*	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	32						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.S32*(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCTGGCCCTCGACATCCCCG	0.572000													9	42					3.86212e-05	4.45596e-05	0.008291	1	0
IFT122	55764	broad.mit.edu	37	3	129239079	129239079	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:129239079C>T	ENST00000296266.3	+	31	4042	c.3850C>T	c.(3850-3852)Cgc>Tgc	p.R1284C	IFT122_ENST00000347300.2_Missense_Mutation_p.R1174C|IFT122_ENST00000440957.2_Missense_Mutation_p.R1024C|IFT122_ENST00000349441.2_Missense_Mutation_p.R1123C|IFT122_ENST00000431818.2_Missense_Mutation_p.R1083C|IFT122_ENST00000504021.1_Missense_Mutation_p.R1110C|IFT122_ENST00000348417.2_Missense_Mutation_p.R1233C|IFT122_ENST00000507564.1_Missense_Mutation_p.R1226C	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1233					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.R1284C(2)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCCCTACTGCCGCAGGTGCAA	0.582000													8	15					0	0	0.006214	0	0
CADPS	8618	broad.mit.edu	37	3	62535709	62535709	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:62535709C>A	ENST00000383710.4	-	11	2184	c.1835G>T	c.(1834-1836)cGc>cTc	p.R612L	CADPS_ENST00000283269.9_Missense_Mutation_p.R612L|CADPS_ENST00000357948.3_Missense_Mutation_p.R612L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	612	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.R612L(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCACAGGATGCGGTCTTGTTC	0.557000													74	63					3.52879e-18	6.09359e-18	0.014410	1	0
TTN	7273	broad.mit.edu	37	2	179614934	179614934	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179614934G>T	ENST00000360870.5	-	46	12415	c.12193C>A	c.(12193-12195)Caa>Aaa	p.Q4065K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3454							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTTGCTTGGTCAAACACC	0.413000													23	53					1.64293e-13	2.58069e-13	0.018920	1	0
DSN1	79980	broad.mit.edu	37	20	35390863	35390863	+	Splice_Site	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:35390863C>T	ENST00000426836.1	-	6	963		c.e6+1		DSN1_ENST00000373734.4_Splice_Site|DSN1_ENST00000373740.3_Splice_Site|DSN1_ENST00000473615.1_Splice_Site|DSN1_ENST00000373745.3_Splice_Site|DSN1_ENST00000373750.4_Splice_Site|DSN1_ENST00000448110.1_Splice_Site	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component						cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				ACTGCTCTTACCCATTTGAAT	0.443000													12	16					0	0	0.020292	0	0
NF1	4763	broad.mit.edu	37	17	29654692	29654692	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:29654692A>T	ENST00000358273.4	+	38	5827	c.5444A>T	c.(5443-5445)cAg>cTg	p.Q1815L	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.Q1794L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1815					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.Q1815L(2)|p.H1814fs*43(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCATGCACCAGGAGTGTGAA	0.488000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			27	54					0	0	0.008361	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20127706	20127706	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:20127706T>G	ENST00000334554.7	+	5	767	c.626T>G	c.(625-627)gTg>gGg	p.V209G	ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Intron|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.V209G	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	209						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.V209G(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TTCCATGTGGTGCTGGTCACT	0.642000													5	128					0	0	0.021553	0	0
SLC12A5	57468	broad.mit.edu	37	20	44680367	44680367	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:44680367G>T	ENST00000454036.1	+	18	2380	c.2304G>T	c.(2302-2304)gtG>gtT	p.V768V	SLC12A5_ENST00000243964.3_Silent_p.V745V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	768					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.V745V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCAGGTGGTGATCTCCTCCA	0.627000													15	68					0.000219431	0.000246094	0.020292	1	0
RYR2	6262	broad.mit.edu	37	1	237936818	237936818	+	Splice_Site	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:237936818A>T	ENST00000366574.2	+	87	11963		c.e87-1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTATTTCCCAGGAATCAATT	0.323000													11	18					0	0	0.010729	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933527	94933527	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:94933527G>A	ENST00000337425.5	-	3	949	c.875C>T	c.(874-876)cCt>cTt	p.P292L	SERPINA9_ENST00000448305.2_Missense_Mutation_p.P194L|SERPINA9_ENST00000424550.2_Missense_Mutation_p.P143L|SERPINA9_ENST00000380365.3_Missense_Mutation_p.P274L|SERPINA9_ENST00000546329.1_Missense_Mutation_p.P256L|SERPINA9_ENST00000298845.7_Missense_Mutation_p.P192L	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	274			R -> I (in dbSNP:rs28618118).		regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.P292L(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCCCTTGCTAGGGAGGACAAA	0.522000													19	40					0	0	0.008871	0	0
OR2M5	127059	broad.mit.edu	37	1	248308449	248308449	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:248308449C>A	ENST00000366476.1	+	1	0		c.e1-1			NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ACATATTCATCATGGCATGGG	0.413000													23	136					2.89027e-11	4.21026e-11	0.014323	1	0
FAM221A	340277	broad.mit.edu	37	7	23729051	23729051	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:23729051G>A	ENST00000344962.4	+	3	492	c.403G>A	c.(403-405)Gct>Act	p.A135T	FAM221A_ENST00000409192.3_Missense_Mutation_p.A135T|FAM221A_ENST00000409994.3_Missense_Mutation_p.A77T|FAM221A_ENST00000409653.1_Missense_Mutation_p.A77T	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	135								p.A135T(1)									TCAGCACAGTGCTGCGCCTGG	0.428000													4	54					0	0	0.009096	0	0
CNGA4	1262	broad.mit.edu	37	11	6262914	6262914	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:6262914G>T	ENST00000379936.2	+	5	1286	c.1171G>T	c.(1171-1173)Ggt>Tgt	p.G391C	CNGA4_ENST00000533426.1_Missense_Mutation_p.G160C	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	391					response to stimulus|sensory perception of smell		cAMP binding	p.G391C(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCGAGAGGGTCAACTGGC	0.537000													60	157					2.05175e-36	4.00745e-36	0.014410	1	0
TXLNB	167838	broad.mit.edu	37	6	139569031	139569031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:139569031C>A	ENST00000358430.3	-	8	1325	c.1093G>T	c.(1093-1095)Gga>Tga	p.G365*		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	365						cytoplasm		p.G365*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCAAACCTTCCTGAGTAGAGA	0.378000													29	52					1.88708e-17	3.2266e-17	0.008361	1	0
CTCFL	140690	broad.mit.edu	37	20	56087660	56087660	+	Nonsense_Mutation	SNP	A	A	T	rs150326376		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:56087660A>T	ENST00000429804.2	-	7	1889	c.1329T>A	c.(1327-1329)taT>taA	p.Y443*	CTCFL_ENST00000423479.2_Nonsense_Mutation_p.Y493*|CTCFL_ENST00000243914.3_Nonsense_Mutation_p.Y493*|CTCFL_ENST00000502686.2_Nonsense_Mutation_p.Y231*|CTCFL_ENST00000539382.1_Nonsense_Mutation_p.Y288*|CTCFL_ENST00000422869.2_Nonsense_Mutation_p.Y493*|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000422109.2_Intron|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000371196.2_Nonsense_Mutation_p.Y493*|CTCFL_ENST00000433949.2_Nonsense_Mutation_p.Y493*	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	493					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.Y493*(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GCTTGCAGGCATAACTGCAGT	0.463000													33	127					0	0	0.017118	0	0
GUCY2F	2986	broad.mit.edu	37	X	108625421	108625421	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:108625421G>T	ENST00000218006.2	-	17	3367	c.3076C>A	c.(3076-3078)Ctc>Atc	p.L1026I		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1026					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.L1026I(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ACAGTGCTGAGACTGACATGA	0.388000													36	188					1.90571e-15	3.13016e-15	0.019004	1	0
KCNQ4	9132	broad.mit.edu	37	1	41304035	41304035	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:41304035G>T	ENST00000347132.5	+	14	2010	c.1928G>T	c.(1927-1929)tGc>tTc	p.C643F	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.C589F	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	643	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		p.C643F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TATTCGCGCTGCCTGCGCTCT	0.682000													27	77					4.87955e-14	7.79384e-14	0.027356	1	0
GPR112	139378	broad.mit.edu	37	X	135443691	135443691	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:135443691G>C	ENST00000394143.1	+	12	7513	c.7222G>C	c.(7222-7224)Gag>Cag	p.E2408Q	GPR112_ENST00000412101.1_Missense_Mutation_p.E2203Q|GPR112_ENST00000287534.4_Missense_Mutation_p.E2206Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E2408Q|GPR112_ENST00000394141.1_Missense_Mutation_p.E2203Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2408					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E2408Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACCCTACGGAGACAGCCCA	0.403000													16	73					0	0	0.004990	0	0
OR5K4	403278	broad.mit.edu	37	3	98073296	98073296	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:98073296A>G	ENST00000354924.2	+	1	599	c.599A>G	c.(598-600)tAt>tGt	p.Y200C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y200C(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CTAATGATATATATCTTTTCA	0.333000													11	49					0	0	0.010729	0	0
KCNA4	3739	broad.mit.edu	37	11	30033943	30033943	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:30033943C>T	ENST00000328224.6	-	2	1516	c.283G>A	c.(283-285)Gcc>Acc	p.A95T		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	95						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.A95T(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CGGTAGTGGGCTTTCTTCTTC	0.612000													17	26					0	0	0.006122	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090018	22090018	+	RNA	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:22090018C>T	ENST00000542354.1	+	0	28																											GGCTCAGGAACCGGGGATGCA	0.498000													5	29					0	0	0.014758	0	0
ATP1B1	481	broad.mit.edu	37	1	169080727	169080727	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:169080727G>T	ENST00000367816.1	+	3	746	c.217G>T	c.(217-219)Gcc>Tcc	p.A73S	ATP1B1_ENST00000367813.3_Missense_Mutation_p.A65S|ATP1B1_ENST00000494797.1_3'UTR|ATP1B1_ENST00000367815.3_Missense_Mutation_p.A73S|ATP1B1_ENST00000499679.3_Missense_Mutation_p.A17S			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	73					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	p.A73S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GGACCGAGTGGCCCCGCCAGG	0.428000													22	39					7.92952e-12	1.17479e-11	0.021523	1	0
ACACB	32	broad.mit.edu	37	12	109605836	109605836	+	Missense_Mutation	SNP	G	G	T	rs78715638		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:109605836G>T	ENST00000338432.7	+	4	1041	c.922G>T	c.(922-924)Gca>Tca	p.A308S	ACACB_ENST00000377854.5_Missense_Mutation_p.A308S|ACACB_ENST00000377848.3_Missense_Mutation_p.A308S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	308	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.A308S(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TAAGGCCAACGCAGGTACCTG	0.627000													5	34					3.59834e-05	4.19806e-05	0.021553	1	0
ADAM2	2515	broad.mit.edu	37	8	39607214	39607214	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:39607214C>A	ENST00000265708.4	-	17	1950	c.1847G>T	c.(1846-1848)tGt>tTt	p.C616F	ADAM2_ENST00000347580.4_Missense_Mutation_p.C597F|ADAM2_ENST00000521880.1_Missense_Mutation_p.C553F|ADAM2_ENST00000379853.2_Missense_Mutation_p.C460F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	616	EGF-like.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.C616F(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GTCAGTAGTACAATCATAACC	0.363000													11	33					2.68362e-12	4.05654e-12	0.013537	1	0
ZNF461	92283	broad.mit.edu	37	19	37129923	37129923	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:37129923C>A	ENST00000588268.1	-	6	1551	c.1324G>T	c.(1324-1326)Gag>Tag	p.E442*	ZNF461_ENST00000360357.4_Nonsense_Mutation_p.E419*|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E442*(1)|p.E315*(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCCTTACACTCATAGGGTTTC	0.408000													21	36					4.96729e-08	6.4279e-08	0.008871	1	0
LIMK2	3985	broad.mit.edu	37	22	31661989	31661989	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:31661989G>C	ENST00000331728.4	+	8	1026	c.912G>C	c.(910-912)ctG>ctC	p.L304L	LIMK2_ENST00000406516.1_Silent_p.L226L|LIMK2_ENST00000340552.4_Silent_p.L283L|LIMK2_ENST00000333611.4_Silent_p.L283L|LIMK2_ENST00000444929.2_Silent_p.L58L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	304						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	p.L283L(1)|p.L304L(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGCCCCTGCTGTTCAGCCGTG	0.572000													24	58					0	0	0.018920	0	0
ZNF208	7757	broad.mit.edu	37	19	22156742	22156742	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:22156742C>A	ENST00000397126.4	-	4	1242	c.1094G>T	c.(1093-1095)gGa>gTa	p.G365V	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.G365V(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTTCTCTCCAGTATGAAT	0.388000													15	17					1.67942e-08	2.20331e-08	0.006122	1	0
NRXN1	9378	broad.mit.edu	37	2	51254934	51254934	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:51254934G>T	ENST00000404971.1	-	2	1817	c.478C>A	c.(478-480)Ccg>Acg	p.P160T	NRXN1_ENST00000402717.3_Missense_Mutation_p.P160T|NRXN1_ENST00000401669.2_Missense_Mutation_p.P160T|NRXN1_ENST00000406316.2_Missense_Mutation_p.P160T|NRXN1_ENST00000406859.3_Missense_Mutation_p.P160T|NRXN1_ENST00000405581.1_Missense_Mutation_p.P160T|NRXN1_ENST00000405472.3_Missense_Mutation_p.P160T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	160	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.P160M(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGCAGTTCCGGGGGCAGCCCC	0.662000													8	6					0.00448238	0.004795	0.004482	1	0
ZNF692	55657	broad.mit.edu	37	1	249144510	249144510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:249144510C>A	ENST00000451251.1	-	12	1819	c.1474G>T	c.(1474-1476)Gag>Tag	p.E492*	ZNF692_ENST00000427146.1_Nonsense_Mutation_p.E442*|ZNF692_ENST00000366469.5_Nonsense_Mutation_p.E486*|ZNF692_ENST00000306601.4_Nonsense_Mutation_p.E487*|ZNF692_ENST00000366471.3_Nonsense_Mutation_p.E442*	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E487*(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGACAGGGCTCTAGGGGACCA	0.622000													18	120					6.33239e-15	1.03198e-14	0.010504	1	0
OR14I1	401994	broad.mit.edu	37	1	248845177	248845177	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:248845177T>A	ENST00000342623.3	-	1	452	c.429A>T	c.(427-429)gcA>gcT	p.A143A		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A143A(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AGGTGGTGACTGCCATCTGAT	0.532000													3	17					0	0	0.004672	0	0
OPRM1	4988	broad.mit.edu	37	6	154410984	154410984	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:154410984C>A	ENST00000414028.2	+	2	364	c.314C>A	c.(313-315)aCc>aAc	p.T105N	OPRM1_ENST00000229768.5_Missense_Mutation_p.T105N|OPRM1_ENST00000452687.2_Missense_Mutation_p.T105N|OPRM1_ENST00000434900.2_Missense_Mutation_p.T198N|OPRM1_ENST00000428397.2_Missense_Mutation_p.T105N|OPRM1_ENST00000419506.2_Missense_Mutation_p.T105N|OPRM1_ENST00000522236.1_Missense_Mutation_p.T5N|OPRM1_ENST00000330432.7_Missense_Mutation_p.T105N|OPRM1_ENST00000337049.4_Missense_Mutation_p.T105N|OPRM1_ENST00000435918.2_Missense_Mutation_p.T105N|OPRM1_ENST00000524163.1_Missense_Mutation_p.T105N|OPRM1_ENST00000518759.1_Missense_Mutation_p.T24N|OPRM1_ENST00000360422.4_Missense_Mutation_p.T105N|OPRM1_ENST00000520708.1_Missense_Mutation_p.T5N|OPRM1_ENST00000522555.1_Missense_Mutation_p.T5N	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	105					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.T105N(2)|p.T198N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	AAGACTGCCACCAACATCTAC	0.413000													27	43					2.79863e-10	3.94456e-10	0.024334	1	0
CCNB3	85417	broad.mit.edu	37	X	50089805	50089805	+	Splice_Site	SNP	G	G	T	rs61751434	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:50089805G>T	ENST00000376042.1	+	10	4107	c.3810_splice	c.e10+1	p.R1270_splice	CCNB3_ENST00000276014.7_Splice_Site_p.R1270_splice|CCNB3_ENST00000348603.2_Splice_Site_p.R166_splice|CCNB3_ENST00000376038.1_Splice_Site_p.R166_splice			Q8WWL7	CCNB3_HUMAN	cyclin B3	1270					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.R1270M(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGATATGCTAGGGTAAGAGAG	0.468000													9	18					7.48243e-07	9.27964e-07	0.006214	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063050	48063050	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:48063050C>A	ENST00000316364.5	+	19	2729	c.2290C>A	c.(2290-2292)Caa>Aaa	p.Q764K	SEMA6D_ENST00000536845.2_Missense_Mutation_p.Q764K|SEMA6D_ENST00000389428.3_Missense_Mutation_p.Q689K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.Q721K|SEMA6D_ENST00000537942.1_Missense_Mutation_p.Q702K|SEMA6D_ENST00000354744.4_Missense_Mutation_p.Q708K|SEMA6D_ENST00000389433.2_Missense_Mutation_p.Q745K|SEMA6D_ENST00000358066.4_Missense_Mutation_p.Q702K|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.Q702K|SEMA6D_ENST00000558816.1_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	764					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.Q702K(1)|p.Q764K(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCATCGAGGGCAACCTCCAGA	0.498000													16	26					1.5739e-10	2.24873e-10	0.028581	1	0
CNKSR2	22866	broad.mit.edu	37	X	21534736	21534736	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:21534736C>A	ENST00000425654.2	+	9	1424	c.944C>A	c.(943-945)cCc>cAc	p.P315H	CNKSR2_ENST00000379510.3_Missense_Mutation_p.P315H|CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P315H	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	315					regulation of signal transduction	cytoplasm|membrane	protein binding	p.P315H(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGATGGAAGCCCCTTGCTCTG	0.418000													16	57					5.3912e-06	6.47814e-06	0.006122	1	0
SLC30A2	7780	broad.mit.edu	37	1	26371649	26371649	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:26371649C>A	ENST00000374278.3	-	2	326	c.110G>T	c.(109-111)gGc>gTc	p.G37V	SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Missense_Mutation_p.G37V	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	37					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	p.G37V(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTCCAGGCCAGGTCGGGG	0.612000													22	68					1.10513e-12	1.70511e-12	0.014323	1	0
STAT3	6774	broad.mit.edu	37	17	40468916	40468916	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:40468916C>G	ENST00000264657.5	-	23	2460	c.2148G>C	c.(2146-2148)acG>acC	p.T716T	STAT3_ENST00000389272.3_Silent_p.T618T|STAT3_ENST00000404395.3_Silent_p.T715T|STAT3_ENST00000588969.1_Silent_p.T716T|STAT3_ENST00000585517.1_Intron	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	716					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.T716T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGCTGCAGGTCGTTCTGTAGG	0.483000									Hyperimmunoglobulin E Recurrent Infection Syndrome				8	54					0	0	0.003080	0	0
FAM173B	134145	broad.mit.edu	37	5	10227695	10227695	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:10227695C>G	ENST00000280330.8	-	6	674	c.68G>C	c.(67-69)cGg>cCg	p.R23P	FAM173B_ENST00000510047.1_Missense_Mutation_p.R170P|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000511437.1_Missense_Mutation_p.R187P			Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	187						integral to membrane		p.R187P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GAAAGGGAACCGGCAAGCAAT	0.488000													11	40					0	0	0.013537	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41454958	41454958	+	RNA	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:41454958G>C	ENST00000599198.1	+	0	1349					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GTGCCCACAGGGAAGCGGATT	0.567000													26	25					0	0	0.008361	0	0
FKBP5	2289	broad.mit.edu	37	6	35588009	35588009	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:35588009T>C	ENST00000542713.1	-	4	450	c.293A>G	c.(292-294)aAg>aGg	p.K98R	FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.K98R|FKBP5_ENST00000536438.1_Missense_Mutation_p.K98R|FKBP5_ENST00000357266.4_Missense_Mutation_p.K98R	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	98	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	p.K98R(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTCTCCTTTCTTCATGGTAGC	0.423000													38	38					0	0	0.021022	0	0
CDH11	1009	broad.mit.edu	37	16	65005902	65005902	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:65005902G>A	ENST00000394156.3	-	10	1909	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S	CDH11_ENST00000566827.1_Missense_Mutation_p.P360S|CDH11_ENST00000268603.4_Missense_Mutation_p.P486S			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	486	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P486S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCAAACTTGGGAGCATTATCG	0.483000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			12	7					0	0	0.010729	0	0
MME	4311	broad.mit.edu	37	3	154802044	154802044	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:154802044A>G	ENST00000460393.1	+	2	208	c.88A>G	c.(88-90)Agc>Ggc	p.S30G	MME_ENST00000382989.3_Missense_Mutation_p.S30G|MME_ENST00000492661.1_Missense_Mutation_p.S30G|MME_ENST00000360490.2_Missense_Mutation_p.S30G|MME_ENST00000493237.1_Missense_Mutation_p.S30G|MME_ENST00000462745.1_Missense_Mutation_p.S30G	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	30					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.S30G(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ACTGGAGATCAGCCTCTCGGT	0.478000													45	112					0	0	0.014410	0	0
PPFIA2	8499	broad.mit.edu	37	12	81751860	81751860	+	Splice_Site	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:81751860C>G	ENST00000550584.2	-	15	2069		c.e15+1		PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000333447.7_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000549396.1_Splice_Site	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2									p.?(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAAAGATTAACCTTTGGCTCA	0.358000													2	13					0	0	0.004672	0	0
TRABD2A	129293	broad.mit.edu	37	2	85049050	85049050	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:85049050G>T	ENST00000335459.5	-	6	1567	c.1362C>A	c.(1360-1362)ccC>ccA	p.P454P	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Silent_p.P503P	NM_001080824.1	NP_001074293.1			TraB domain containing 2A									p.P454P(1)|p.P503P(1)									GTTACAGGAGGGGTGTCTCTG	0.572000													4	7					0.00909568	0.00959231	0.009096	1	0
TKTL1	8277	broad.mit.edu	37	X	153539266	153539266	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:153539266T>G	ENST00000369915.3	+	4	619	c.430T>G	c.(430-432)Tac>Gac	p.Y144D	TKTL1_ENST00000369912.2_Missense_Mutation_p.Y88D|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	144					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	p.Y144D(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTTCCTACTACAGTCTGGA	0.542000													3	106					0	0	0.004672	0	0
AASS	10157	broad.mit.edu	37	7	121755132	121755132	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:121755132G>T	ENST00000393376.1	-	8	1134	c.1039C>A	c.(1039-1041)Cac>Aac	p.H347N	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.H347N			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	347	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	p.H347N(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCTTACTTGTGTGGTAATGCA	0.478000													16	50					3.41278e-10	4.79721e-10	0.004990	1	0
ADAM29	11086	broad.mit.edu	37	4	175898483	175898483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:175898483G>T	ENST00000359240.3	+	5	2477	c.1807G>T	c.(1807-1809)Gag>Tag	p.E603*	ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E603*|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E603*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E603*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	603	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.E603*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGATGGAACAGAGTGTGGGAT	0.433000													26	134					4.43304e-23	8.11168e-23	0.006320	1	0
TLN2	83660	broad.mit.edu	37	15	63004131	63004131	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:63004131G>T	ENST00000561311.1	+	21	2719	c.2489G>T	c.(2488-2490)cGg>cTg	p.R830L	TLN2_ENST00000306829.6_Missense_Mutation_p.R830L			Q9Y4G6	TLN2_HUMAN	talin 2	830					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.R830L(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGCCAGGCGCGGGTTCTGGCC	0.507000													13	24					1.5842e-08	2.08101e-08	0.016723	1	0
IKZF2	22807	broad.mit.edu	37	2	213914437	213914437	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:213914437C>A	ENST00000457361.1	-	5	742	c.574_splice	c.e5+1	p.V192_splice	IKZF2_ENST00000421754.2_Splice_Site_p.V166_splice|IKZF2_ENST00000374319.4_Splice_Site_p.V166_splice|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000451136.2_Splice_Site_p.V166_splice|IKZF2_ENST00000434687.1_Splice_Site_p.V192_splice|IKZF2_ENST00000342002.2_Splice_Site_p.V198_splice|IKZF2_ENST00000413091.3_Splice_Site_p.V192_splice	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V192L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGACACTTACCAGAATGGGTC	0.428000													22	58					4.26978e-12	6.38935e-12	0.018920	1	0
REV3L	5980	broad.mit.edu	37	6	111695587	111695587	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:111695587C>G	ENST00000435970.1	-	15	4553	c.3737G>C	c.(3736-3738)tGt>tCt	p.C1246S	REV3L_ENST00000358835.3_Missense_Mutation_p.C1324S|REV3L_ENST00000368802.3_Missense_Mutation_p.C1324S|REV3L_ENST00000368805.1_Missense_Mutation_p.C1324S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1324					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.C1246S(1)|p.C1324S(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TATAGAATTACAAACAACTGA	0.348000								DNA polymerases (catalytic subunits)					12	123					0	0	0.010729	0	0
OR5B12	390191	broad.mit.edu	37	11	58207585	58207585	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:58207585C>A	ENST00000302572.2	-	1	61	c.40G>T	c.(40-42)Ggg>Tgg	p.G14W		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G14W(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCAGTTAACCCCACAAGGATG	0.438000													32	54					1.67305e-13	2.62404e-13	0.025465	1	0
FAT4	79633	broad.mit.edu	37	4	126370085	126370085	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:126370085G>T	ENST00000394329.3	+	9	7927	c.7914G>T	c.(7912-7914)tgG>tgT	p.W2638C	FAT4_ENST00000335110.5_Missense_Mutation_p.W936C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2638	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.W2638C(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						atgttgtatggatagaggcca	0.388000													16	22					6.72482e-11	9.66114e-11	0.024245	1	0
DLG4	1742	broad.mit.edu	37	17	7095232	7095232	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:7095232G>A	ENST00000399510.2	-	20	2937	c.2085C>T	c.(2083-2085)ccC>ccT	p.P695P	DLG4_ENST00000302955.6_Silent_p.P649P|DLG4_ENST00000399506.2_Silent_p.P652P	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	652	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	p.P649P(1)|p.P695P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CCAGGGAGCGGGGGCGGATGA	0.667000													4	94					0	0	0.009096	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280107	18280107	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:18280107C>A	ENST00000377369.2	+	8	1570	c.1297C>A	c.(1297-1299)Cca>Aca	p.P433T	SLC39A12_ENST00000377371.3_Missense_Mutation_p.P433T|SLC39A12_ENST00000377374.4_Missense_Mutation_p.P433T|SLC39A12_ENST00000539911.1_Missense_Mutation_p.P299T	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	433					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.P433T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCAGGAAGCCCCAGAATTTGG	0.343000													21	59					6.44725e-10	9.00199e-10	0.014323	1	0
SOS2	6655	broad.mit.edu	37	14	50626482	50626482	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:50626482C>T	ENST00000216373.5	-	10	1793	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	SOS2_ENST00000543680.1_Missense_Mutation_p.E474K|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	507	PH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.E507K(4)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGCTTGTGCTCACAAGTATCT	0.373000													20	84					0	0	0.007413	0	0
GFI1B	8328	broad.mit.edu	37	9	135864468	135864468	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:135864468G>T	ENST00000339463.3	+	9	1350	c.531G>T	c.(529-531)ggG>ggT	p.G177G	GFI1B_ENST00000534944.1_Intron|GFI1B_ENST00000372123.1_Intron|GFI1B_ENST00000372122.1_Silent_p.G177G|GFI1B_ENST00000450530.1_Silent_p.G177G|GFI1B_ENST00000372124.1_Intron			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	177	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	p.G177G(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCCCTCACGGGCTCGAAGTGC	0.652000													7	17					8.12818e-05	9.21489e-05	0.001984	1	0
STK17B	9262	broad.mit.edu	37	2	197002295	197002295	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:197002295C>T	ENST00000263955.4	-	8	1281	c.995G>A	c.(994-996)gGa>gAa	p.G332E	STK17B_ENST00000409228.1_Missense_Mutation_p.G332E	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	332					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	p.G332E(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ACCACAGGTTCCATTACAGGA	0.418000													32	78					0	0	0.010818	0	0
MMD2	221938	broad.mit.edu	37	7	4947150	4947150	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:4947150C>A	ENST00000404774.3	-	7	884	c.690G>T	c.(688-690)ggG>ggT	p.G230G	MMD2_ENST00000406755.1_3'UTR|MMD2_ENST00000401401.3_Silent_p.G206G	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	230						integral to membrane	receptor activity	p.G206G(1)|p.G230G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		AGGGGATCCTCCCGTCACTCT	0.582000													44	43					9.39024e-22	1.68572e-21	0.009718	1	0
BAI3	577	broad.mit.edu	37	6	70065732	70065732	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:70065732T>C	ENST00000370598.1	+	28	4396	c.3575T>C	c.(3574-3576)gTa>gCa	p.V1192A	BAI3_ENST00000238918.8_Missense_Mutation_p.V398A|BAI3_ENST00000546190.1_Missense_Mutation_p.V156A	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1192					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V1192A(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAAAAGGATGTAGACATTGCC	0.289000													38	45					0	0	0.011902	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377093	125377093	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:125377093C>T	ENST00000297913.2	+	1	146	c.77C>T	c.(76-78)cCa>cTa	p.P26L	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P26L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GAGCAAATCCCACTCTTCCTT	0.468000													45	59					0	0	0.014410	0	0
YME1L1	10730	broad.mit.edu	37	10	27437936	27437936	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:27437936A>T	ENST00000326799.3	-	2	215	c.67T>A	c.(67-69)Ttc>Atc	p.F23I	YME1L1_ENST00000376016.3_Missense_Mutation_p.F23I|YME1L1_ENST00000375972.3_Missense_Mutation_p.F23I|YME1L1_ENST00000477432.1_Missense_Mutation_p.F23I	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	23					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	p.F23I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGTGTATGGAAGGCATTGATG	0.368000													12	234					0	0	0.004990	0	0
MATN1	4146	broad.mit.edu	37	1	31194360	31194360	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:31194360G>T	ENST00000373765.4	-	2	368	c.333C>A	c.(331-333)atC>atA	p.I111I	MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	111	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.I111I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGCGGCTGGATACGGCGCA	0.637000													25	85					2.50493e-22	4.53584e-22	0.024334	1	0
CSPP1	79848	broad.mit.edu	37	8	68024301	68024301	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:68024301G>T	ENST00000262210.5	+	9	1245		c.e9+1		CSPP1_ENST00000412460.1_Splice_Site	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1							centrosome|microtubule|spindle		p.?(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACAAGAGACGGTAATGAAAGG	0.353000													19	45					7.45023e-12	1.1085e-11	0.010504	1	0
EPHA2	1969	broad.mit.edu	37	1	16464386	16464386	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:16464386C>A	ENST00000358432.5	-	5	1428	c.1274G>T	c.(1273-1275)cGc>cTc	p.R425L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	425	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.R425L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACGGAAGCTGCGGCTGGTTAC	0.632000													15	38					1.15919e-05	1.3739e-05	0.008871	1	0
UNC13D	201294	broad.mit.edu	37	17	73836587	73836587	+	Splice_Site	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:73836587C>T	ENST00000207549.4	-	9	1133		c.e9+1		UNC13D_ENST00000587504.1_Splice_Site|UNC13D_ENST00000412096.2_Splice_Site	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)						positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATCCTCCTCACCTGCAGCCTC	0.622000									Familial Hemophagocytic Lymphohistiocytosis				30	42					0	0	0.012213	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994985	140994985	+	Missense_Mutation	SNP	C	C	A	rs150321883		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:140994985C>A	ENST00000285879.4	+	4	2081	c.1795C>A	c.(1795-1797)Cct>Act	p.P599T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	599							protein binding	p.P599T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGG	0.582000										HNSCC(15;0.026)			89	477					1.50328e-30	2.8822e-30	0.014410	1	0
DEFB136	613210	broad.mit.edu	37	8	11832107	11832107	+	Translation_Start_Site	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:11832107A>T	ENST00000382209.2	-	1	1	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	1					defense response to bacterium	extracellular region		p.M1K(1)		endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		ACAGAGGTTCATGGCCGAAGA	0.542000													37	97					0	0	0.015359	0	0
TAF1L	138474	broad.mit.edu	37	9	32634278	32634278	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:32634278T>C	ENST00000242310.4	-	1	1389	c.1300A>G	c.(1300-1302)Atc>Gtc	p.I434V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	434					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.I434V(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCATCCCAGATGATAGAATCC	0.468000													40	153					0	0	0.027894	0	0
PBX2	5089	broad.mit.edu	37	6	32155934	32155934	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:32155934C>A	ENST00000375050.4	-	4	814		c.e4-1			NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2								transcription factor binding	p.?(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CATTACATGCCTGTAGTGGGG	0.607000													11	22					0.000673444	0.000740931	0.008291	1	0
TRBV3-1	28619	broad.mit.edu	37	7	142008644	142008644	+	RNA	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:142008644C>A	ENST00000390387.3	+	0	164																											ACGACAAGTCCATTAAATGTG	0.398000													17	48					2.23348e-06	2.73098e-06	0.028581	1	0
ACIN1	22985	broad.mit.edu	37	14	23531687	23531687	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:23531687T>A	ENST00000262710.1	-	15	3430	c.3103A>T	c.(3103-3105)Aca>Tca	p.T1035S	ACIN1_ENST00000357481.2_Missense_Mutation_p.T277S|ACIN1_ENST00000397341.3_Missense_Mutation_p.T277S|ACIN1_ENST00000605057.1_Missense_Mutation_p.T977S|ACIN1_ENST00000557515.1_Missense_Mutation_p.T276S|ACIN1_ENST00000338631.6_Missense_Mutation_p.T308S|ACIN1_ENST00000555053.1_Missense_Mutation_p.T1022S|ACIN1_ENST00000457657.1_Missense_Mutation_p.T995S	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1035					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.T1035S(1)|p.T308S(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AAGGTTCCTGTGCGCCCCAAC	0.478000													45	191					0	0	0.014410	0	0
GRID1	2894	broad.mit.edu	37	10	87966366	87966366	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:87966366G>C	ENST00000327946.7	-	3	360	c.275C>G	c.(274-276)aCg>aGg	p.T92R		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	92						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.T92R(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCCAGTGGACGTGACCAAGGC	0.597000										Multiple Myeloma(13;0.14)			6	17					0	0	0.001984	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677515	37677515	+	Silent	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:37677515A>T	ENST00000532828.2	-	5	1175	c.924T>A	c.(922-924)atT>atA	p.I308I	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Silent_p.I253I|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.I308I(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGACTTGGAAATGAAGGATT	0.418000													51	209					0	0	0.014410	0	0
TENM3	55714	broad.mit.edu	37	4	183601430	183601430	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:183601430C>A	ENST00000511685.1	+	9	1690	c.1567C>A	c.(1567-1569)Cat>Aat	p.H523N	TENM3_ENST00000406950.2_Missense_Mutation_p.H523N					teneurin transmembrane protein 3									p.H523N(1)									CCGAAATTGCCATGGAAATGG	0.423000													16	20					3.51602e-12	5.29943e-12	0.008871	1	0
ABCA13	154664	broad.mit.edu	37	7	48237881	48237881	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:48237881G>T	ENST00000435803.1	+	3	235	c.211G>T	c.(211-213)Gtt>Ttt	p.V71F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	71					transport	integral to membrane	ATP binding|ATPase activity	p.V71F(1)|p.V16F(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATCCCCTTTGTTCAAAGCCT	0.423000													16	32					2.4624e-09	3.34847e-09	0.008871	1	0
AGBL1	123624	broad.mit.edu	37	15	86807756	86807756	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:86807756T>A	ENST00000441037.2	+	10	1311	c.1216T>A	c.(1216-1218)Tct>Act	p.S406T	AGBL1_ENST00000421325.2_Missense_Mutation_p.S406T|AGBL1_ENST00000389298.3_Missense_Mutation_p.S137T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	406					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.S406N(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAGAGATTCTTCTGAAAGTGA	0.468000													23	60					0	0	0.018920	0	0
USP11	8237	broad.mit.edu	37	X	47106710	47106710	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:47106710G>T	ENST00000377107.2	+	19	2782	c.2428G>T	c.(2428-2430)Gac>Tac	p.D810Y	USP11_ENST00000218348.3_Missense_Mutation_p.D853Y			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	853					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D853Y(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CAGGGACCTGGACTTCTCTGA	0.557000													26	30					2.41591e-17	4.1039e-17	0.024334	1	0
ANXA3	306	broad.mit.edu	37	4	79503387	79503387	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:79503387G>T	ENST00000264908.6	+	5	634	c.255G>T	c.(253-255)gtG>gtT	p.V85V	ANXA3_ENST00000512884.1_Silent_p.V46V|ANXA3_ENST00000503570.2_Silent_p.V46V	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	85					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	p.V85V(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ATCTCATGGTGGCCCTAGTGA	0.448000													9	54					1.12685e-05	1.33862e-05	0.004482	1	0
APC	324	broad.mit.edu	37	5	112178228	112178228	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:112178228G>T	ENST00000457016.1	+	16	7317	c.6937G>T	c.(6937-6939)Gcc>Tcc	p.A2313S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A2313S|APC_ENST00000508376.2_Missense_Mutation_p.A2313S			P25054	APC_HUMAN	adenomatous polyposis coli	2313	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.A2313S(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCAAGACCTGCCCAGCAACC	0.453000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			17	23					1.01871e-10	1.4575e-10	0.008871	1	0
GNAS	2778	broad.mit.edu	37	20	57485075	57485075	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:57485075T>C	ENST00000371100.4	+	11	3390	c.2838T>C	c.(2836-2838)gcT>gcC	p.A946A	GNAS_ENST00000371102.4_Silent_p.A932A|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Silent_p.A289A|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371085.3_Silent_p.A303A|GNAS_ENST00000265620.7_Silent_p.A288A|GNAS_ENST00000354359.7_Silent_p.A304A|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371095.3_Silent_p.A289A	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	303					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.A946A(1)|p.A303A(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AAGTCCTTGCTGGGAAATCGA	0.507000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			31	190					0	0	0.012213	0	0
ITGA11	22801	broad.mit.edu	37	15	68628073	68628073	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:68628073G>T	ENST00000423218.2	-	12	1482	c.1387C>A	c.(1387-1389)Cgg>Agg	p.R463R	ITGA11_ENST00000315757.7_Silent_p.R463R			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	463					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.R463R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GTGAGGCTCCGGTTGTTGTGC	0.647000													3	10					2.56e-06	3.11925e-06	0.009096	1	0
USP38	84640	broad.mit.edu	37	4	144135716	144135716	+	Missense_Mutation	SNP	A	A	T	rs140701873		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:144135716A>T	ENST00000307017.4	+	9	3093	c.2587A>T	c.(2587-2589)Agg>Tgg	p.R863W	USP38_ENST00000510377.1_Missense_Mutation_p.R863W	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	863					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R863*(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TTCTTATGCCAGGAATATCAC	0.438000													14	31					0	0	0.020292	0	0
MYO9B	4650	broad.mit.edu	37	19	17283219	17283219	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:17283219G>C	ENST00000595618.1	+	12	2019	c.1867G>C	c.(1867-1869)Ggc>Cgc	p.G623R	MYO9B_ENST00000594824.1_Missense_Mutation_p.G623R|MYO9B_ENST00000397274.2_Missense_Mutation_p.G623R	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	623	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.G623R(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTACTTCCTGGGCACCCCGGT	0.542000													9	11					0	0	0.006214	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108923	90108923	+	RNA	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:90108923C>A	ENST00000390271.2	+	0	214																											CCAGATCAAGCCCCAAAGCTC	0.522000													21	41					8.10497e-08	1.04235e-07	0.010504	1	0
ANKRD44	91526	broad.mit.edu	37	2	197943540	197943540	+	Splice_Site	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:197943540T>G	ENST00000328737.2	-	16	1540		c.e16-2		ANKRD44_ENST00000337207.5_Splice_Site|ANKRD44_ENST00000282272.8_Splice_Site|ANKRD44_ENST00000450567.1_Splice_Site|ANKRD44_ENST00000409153.1_Splice_Site|ANKRD44_ENST00000539527.1_Splice_Site			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44								protein binding	p.?(3)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTAGACATCTGTAAGTATAA	0.368000													9	21					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179529216	179529216	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179529216G>T	ENST00000589042.1	-	168	36475	c.36251C>A	c.(36250-36252)cCc>cAc	p.P12084H	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10233	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCCTTTGGGGAGGATGCAC	0.408000													40	109					2.9001e-28	5.4403e-28	0.014410	1	0
KIAA0947	23379	broad.mit.edu	37	5	5461256	5461256	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:5461256T>C	ENST00000296564.7	+	13	2031	c.1809T>C	c.(1807-1809)acT>acC	p.T603T		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	603								p.T603T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAGGGTTCACTTTAGGAGAAT	0.408000													44	92					0	0	0.010771	0	0
TRPM5	29850	broad.mit.edu	37	11	2427906	2427906	+	Missense_Mutation	SNP	C	C	G	rs148532424		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:2427906C>G	ENST00000452833.1	-	21	3250	c.3242G>C	c.(3241-3243)cGg>cCg	p.R1081P	TRPM5_ENST00000155858.6_Missense_Mutation_p.R1079P|TRPM5_ENST00000533060.1_Missense_Mutation_p.R1079P|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000528453.1_Missense_Mutation_p.R1079P			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1079						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	p.R1079P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCGGTTTTCCGCAGCACCTC	0.617000													11	69					0	0	0.016723	0	0
CYFIP2	26999	broad.mit.edu	37	5	156751011	156751011	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:156751011G>T	ENST00000347377.6	+	16	2185	c.1754G>T	c.(1753-1755)gGa>gTa	p.G585V	CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.G284V|CYFIP2_ENST00000377576.3_Missense_Mutation_p.G585V|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.G610V|CYFIP2_ENST00000541131.1_Missense_Mutation_p.G510V|CYFIP2_ENST00000522463.1_Missense_Mutation_p.G389V|CYFIP2_ENST00000521420.1_Missense_Mutation_p.G559V	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	610					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.G610V(2)|p.G585V(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCCTGGATGGACCCATTGTC	0.502000													9	11					3.86212e-05	4.45596e-05	0.008291	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072821	17072821	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:17072821G>C	ENST00000359963.3	-	1	879	c.620C>G	c.(619-621)gCg>gGg	p.A207G		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.A207G(1)|p.A207V(1)|p.A207E(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCGGGCAGCGCGCACACCCC	0.617000													21	40					0	0	0.018920	0	0
MEGF6	1953	broad.mit.edu	37	1	3440803	3440803	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:3440803G>C	ENST00000356575.4	-	5	715	c.489C>G	c.(487-489)gaC>gaG	p.D163E	MEGF6_ENST00000294599.4_Missense_Mutation_p.D58E	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	163	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding	p.D163E(1)		cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TTCGGCATTCGTCCACATCTG	0.652000													9	26					0	0	0.016723	0	0
SNAP91	9892	broad.mit.edu	37	6	84350818	84350818	+	Silent	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:84350818T>G	ENST00000428679.2	-	8	1355	c.762A>C	c.(760-762)gcA>gcC	p.A254A	SNAP91_ENST00000520213.1_Silent_p.A254A|SNAP91_ENST00000439399.2_Silent_p.A254A|SNAP91_ENST00000520302.1_Silent_p.A254A|SNAP91_ENST00000521743.1_Silent_p.A254A|SNAP91_ENST00000369694.2_Silent_p.A254A|SNAP91_ENST00000521485.1_Silent_p.A254A|SNAP91_ENST00000437520.1_Silent_p.A254A|SNAP91_ENST00000195649.6_Silent_p.A254A			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	254					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	p.A254A(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TACTTACCTCTGCAACCTTGA	0.299000													2	1					0	0	0.004672	0	0
CPED1	79974	broad.mit.edu	37	7	120704314	120704314	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:120704314A>C	ENST00000310396.5	+	5	1030	c.563A>C	c.(562-564)cAg>cCg	p.Q188P	CPED1_ENST00000450913.2_Missense_Mutation_p.Q188P|CPED1_ENST00000423795.1_5'UTR	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.Q188P(1)									CCAGAAATACAGCAGCCACTT	0.388000													7	43					0	0	0.001984	0	0
SUSD2	56241	broad.mit.edu	37	22	24582315	24582315	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:24582315G>T	ENST00000358321.3	+	10	1835	c.1574G>T	c.(1573-1575)gGa>gTa	p.G525V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	525	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	p.G525V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AACAGGACCGGAGGTCTGGAG	0.652000													9	25					5.4927e-09	7.33533e-09	0.004482	1	0
MAP10	54627	broad.mit.edu	37	1	232943500	232943500	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:232943500G>T	ENST00000418460.1	+	1	2858	c.2731G>T	c.(2731-2733)Ggg>Tgg	p.G911W		NM_019090.2	NP_061963.2			microtubule-associated protein 10									p.G911W(4)									TTTTTCAGCCGGGTCACCTGT	0.378000													11	42					1.08611e-07	1.38485e-07	0.010729	1	0
HNF4A	3172	broad.mit.edu	37	20	43034844	43034844	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:43034844G>T	ENST00000316099.3	+	2	351	c.262G>T	c.(262-264)Gtg>Ttg	p.V88L	HNF4A_ENST00000415691.1_Missense_Mutation_p.V88L|HNF4A_ENST00000443598.2_Missense_Mutation_p.V88L|HNF4A_ENST00000457232.1_Missense_Mutation_p.V66L	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	88					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.V88L(2)|p.V66L(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGGAGGAGCGTGCGGAAGAA	0.617000													21	44					1.87028e-06	2.29495e-06	0.012319	1	0
DPP6	1804	broad.mit.edu	37	7	154684101	154684101	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:154684101C>A	ENST00000404039.1	+	26	2904	c.2317C>A	c.(2317-2319)Cgg>Agg	p.R773R	DPP6_ENST00000377770.3_Silent_p.R837R|DPP6_ENST00000427557.1_Silent_p.R730R|DPP6_ENST00000332007.3_Silent_p.R775R	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	837					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.R773R(1)|p.R775R(1)|p.R837R(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCATCTGTACCGGTCCATCAT	0.512000													18	53					5.03518e-11	7.30417e-11	0.007413	1	0
MCM4	4173	broad.mit.edu	37	8	48878870	48878870	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:48878870G>T	ENST00000262105.2	+	8	1165	c.956G>T	c.(955-957)cGc>cTc	p.R319L	MCM4_ENST00000523944.1_Missense_Mutation_p.R319L	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	319					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.R319L(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GAGATGGACCGCGGCCGCATT	0.622000													7	28					1.6384e-10	2.33769e-10	0.001984	1	0
NYX	60506	broad.mit.edu	37	X	41333566	41333566	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:41333566G>C	ENST00000342595.2	+	2	1316	c.860G>C	c.(859-861)cGc>cCc	p.R287P	NYX_ENST00000378220.1_Missense_Mutation_p.R287P	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	287					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		p.R287P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						TACCTGGACCGCAACAGCATC	0.701000													9	33					0	0	0.006214	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188606	32188606	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:32188606G>T	ENST00000375023.3	-	5	987	c.849C>A	c.(847-849)caC>caA	p.H283Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	283	EGF-like 7; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.H283Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCTGACACTGGTGGCTGACAC	0.557000													52	114					1.13205e-32	2.19465e-32	0.014410	1	0
PCDH8	5100	broad.mit.edu	37	13	53420511	53420511	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:53420511C>A	ENST00000377942.3	-	1	2264	c.2061G>T	c.(2059-2061)agG>agT	p.R687S	PCDH8_ENST00000338862.4_Missense_Mutation_p.R687S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	687	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.R687S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCAGGAGCGCCCTGAACACGC	0.716000													12	3					0.000978159	0.00107166	0.010729	1	0
OR6B3	150681	broad.mit.edu	37	2	240985276	240985276	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:240985276A>T	ENST00000319423.4	-	1	213	c.214T>A	c.(214-216)Tgg>Agg	p.W72R		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W72R(2)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GACACGTACCAGATCTCTAGG	0.557000													20	66					0	0	0.016522	0	0
ARMCX2	9823	broad.mit.edu	37	X	100912509	100912509	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:100912509G>T	ENST00000328766.5	-	5	519	c.66C>A	c.(64-66)taC>taA	p.Y22*	ARMCX2_ENST00000467416.1_5'UTR|ARMCX2_ENST00000330154.2_Nonsense_Mutation_p.Y22*|ARMCX2_ENST00000356824.4_Nonsense_Mutation_p.Y22*	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	22						integral to membrane	binding	p.Y22*(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TGTAGACACAGTACCAGGCAC	0.597000													16	62					0.000422831	0.000469163	0.028581	1	0
EPB41L2	2037	broad.mit.edu	37	6	131247753	131247753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:131247753C>A	ENST00000337057.3	-	4	983	c.802G>T	c.(802-804)Gag>Tag	p.E268*	EPB41L2_ENST00000527659.1_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000529208.1_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000392427.3_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000527411.1_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000525193.1_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000525271.1_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000445890.2_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000530481.1_Nonsense_Mutation_p.E268*|EPB41L2_ENST00000528282.1_Nonsense_Mutation_p.E268*	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	268	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	p.E268*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ACTTTCTGCTCAGGGCTTTCC	0.313000													15	85					3.45872e-05	4.06243e-05	0.028581	1	0
DMD	1756	broad.mit.edu	37	X	32591656	32591656	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:32591656T>C	ENST00000357033.4	-	15	2009	c.1803A>G	c.(1801-1803)caA>caG	p.Q601Q	DMD_ENST00000378677.2_Silent_p.Q597Q|DMD_ENST00000288447.4_Silent_p.Q593Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	601					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.Q601Q(1)|p.Q596Q(1)|p.Q597Q(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGGCCAGTTTTTGAAGACTTG	0.323000													26	45					0	0	0.024334	0	0
RHBDL1	9028	broad.mit.edu	37	16	727795	727795	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:727795G>T	ENST00000219551.2	+	7	1087	c.1060G>T	c.(1060-1062)Ggc>Tgc	p.G354C	RHBDL1_ENST00000352681.3_Missense_Mutation_p.G289C			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	354					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	p.G354C(1)		endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CTCCGAGGTGGGCCGGGCCGT	0.751000													5	9					0.014758	0.0154389	0.014758	1	0
DNAH9	1770	broad.mit.edu	37	17	11865393	11865393	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:11865393C>A	ENST00000262442.3	+	68	13121	c.13053C>A	c.(13051-13053)aaC>aaA	p.N4351K	RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.N4275K|DNAH9_ENST00000396001.2_Missense_Mutation_p.N663K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4351					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.N4351K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTTCTTCAACCCCCAGTCGT	0.547000													19	27					1.33834e-09	1.82469e-09	0.007413	1	0
GABRB3	2562	broad.mit.edu	37	15	26812800	26812800	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:26812800T>C	ENST00000541819.2	-	8	1033	c.931A>G	c.(931-933)Ata>Gta	p.I311V	GABRB3_ENST00000299267.4_Missense_Mutation_p.I255V|GABRB3_ENST00000311550.5_Missense_Mutation_p.I255V|GABRB3_ENST00000545868.1_Missense_Mutation_p.I170V|GABRB3_ENST00000400188.3_Missense_Mutation_p.I184V			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	255					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.I255V(2)|p.I311V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTTATCAGTATAGAGGGCATA	0.423000													19	19					0	0	0.008871	0	0
FBN2	2201	broad.mit.edu	37	5	127712525	127712525	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:127712525G>C	ENST00000508053.1	-	20	2845	c.1871C>G	c.(1870-1872)aCc>aGc	p.T624S	FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000508989.1_Missense_Mutation_p.T591S|FBN2_ENST00000262464.4_Missense_Mutation_p.T624S			P35556	FBN2_HUMAN	fibrillin 2	624	EGF-like 9; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.T624S(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACACATGTTGGTAGTTGTACA	0.438000													41	53					0	0	0.010771	0	0
ANKRD44	91526	broad.mit.edu	37	2	197943539	197943539	+	Splice_Site	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:197943539C>T	ENST00000328737.2	-	16	1540		c.e16-1		ANKRD44_ENST00000337207.5_Splice_Site|ANKRD44_ENST00000282272.8_Splice_Site|ANKRD44_ENST00000450567.1_Splice_Site|ANKRD44_ENST00000409153.1_Splice_Site|ANKRD44_ENST00000539527.1_Splice_Site			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44								protein binding	p.?(3)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTCTAGACATCTGTAAGTATA	0.373000													8	21					0	0	0.003080	0	0
PDCD11	22984	broad.mit.edu	37	10	105197799	105197799	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:105197799C>T	ENST00000369797.3	+	26	3967	c.3873C>T	c.(3871-3873)aaC>aaT	p.N1291N		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1291	S1 motif 11.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.N1291N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTGCAGACAACGTATTGACTT	0.473000													57	144					0	0	0.014410	0	0
BAG3	9531	broad.mit.edu	37	10	121431950	121431950	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:121431950A>G	ENST00000369085.3	+	3	997	c.691A>G	c.(691-693)Acg>Gcg	p.T231A		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	231					anti-apoptosis|apoptosis|protein folding	cytosol		p.T231A(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGCCCAGAAGACGCACTACCC	0.657000													3	63					0	0	0.004672	0	0
COL6A6	131873	broad.mit.edu	37	3	130290119	130290119	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:130290119C>G	ENST00000358511.6	+	6	2890	c.2859C>G	c.(2857-2859)ccC>ccG	p.P953P	COL6A6_ENST00000453409.2_Silent_p.P953P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	953	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen		p.P953P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGCCAATCCCGTGGAGCTGT	0.507000													29	56					0	0	0.009535	0	0
ALPL	249	broad.mit.edu	37	1	21902372	21902372	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:21902372G>A	ENST00000374840.3	+	10	1394	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I	ALPL_ENST00000540617.1_Missense_Mutation_p.V327I|ALPL_ENST00000374832.1_Missense_Mutation_p.V382I|ALPL_ENST00000539907.1_Missense_Mutation_p.V305I|ALPL_ENST00000374830.1_Missense_Mutation_p.V28I|ALPL_ENST00000425315.2_Missense_Mutation_p.V382I|ALPL_ENST00000374829.1_Missense_Mutation_p.V28I	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	382			V -> I (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.V382I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CCATTCCCACGTCTTCACATT	0.607000													8	139					0	0	0.008291	0	0
SH2D4A	63898	broad.mit.edu	37	8	19221651	19221651	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:19221651A>T	ENST00000265807.3	+	7	1186	c.775A>T	c.(775-777)Agg>Tgg	p.R259W	SH2D4A_ENST00000518040.1_Missense_Mutation_p.R214W|SH2D4A_ENST00000519207.1_Missense_Mutation_p.R259W	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	259						cytoplasm|nucleus	protein binding	p.R259W(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AGACTACAAGAGGTTATCCCT	0.547000													10	35					0	0	0.006214	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261947	125261947	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:125261947C>A	ENST00000431078.1	+	8	1502	c.1138C>A	c.(1138-1140)Ctg>Atg	p.L380M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	380	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L380M(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTATTTGCTGCTGCCCGGCAC	0.502000													24	39					1.04121e-07	1.3325e-07	0.027356	1	0
POM121L12	285877	broad.mit.edu	37	7	53104043	53104043	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:53104043G>T	ENST00000408890.4	+	1	695	c.679G>T	c.(679-681)Gct>Tct	p.A227S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	227								p.A227S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGGAGCGGTTGCTTCCTTCGT	0.647000													21	63					1.55795e-14	2.5115e-14	0.012319	1	0
ZNF135	7694	broad.mit.edu	37	19	58572990	58572990	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:58572990G>T	ENST00000401053.4	+	2	115	c.112G>T	c.(112-114)Gag>Tag	p.E38*	ZNF135_ENST00000439855.2_Nonsense_Mutation_p.E26*|ZNF135_ENST00000359978.6_Nonsense_Mutation_p.E38*|ZNF135_ENST00000506786.1_5'UTR|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.E26*|ZNF135_ENST00000313434.5_Nonsense_Mutation_p.E26*	NM_001164529.1|NM_007134.1	NP_001158001.1|NP_009065.1	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	26					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.E38*(1)|p.E26*(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CTTCAGCCAGGAGGAGTGGGG	0.592000													34	51					1.45844e-13	2.30128e-13	0.013726	1	0
CCDC138	165055	broad.mit.edu	37	2	109408185	109408185	+	Silent	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:109408185A>G	ENST00000295124.4	+	4	381	c.321A>G	c.(319-321)gaA>gaG	p.E107E	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Silent_p.E107E	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	107								p.E107E(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						AAACAGAAGAAGAGTTAATTG	0.274000													22	79					0	0	0.018920	0	0
SLC25A24	29957	broad.mit.edu	37	1	108681711	108681711	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:108681711C>T	ENST00000565488.1	-	9	1437	c.1218G>A	c.(1216-1218)ttG>ttA	p.L406L	SLC25A24_ENST00000370041.4_Silent_p.L387L	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	406					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.L387L(1)|p.L406L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TCACCAAAGCCAATGGGTAGC	0.473000													21	37					0	0	0.010504	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882763	228882763	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:228882763G>C	ENST00000392056.3	-	7	2853	c.2807C>G	c.(2806-2808)aCg>aGg	p.T936R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T936R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	936	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding	p.T936R(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAGACGACCGTGTCTGCTAA	0.473000													21	124					0	0	0.010504	0	0
DPP6	1804	broad.mit.edu	37	7	154143394	154143394	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:154143394G>T	ENST00000404039.1	+	2	734	c.147G>T	c.(145-147)tcG>tcT	p.S49S	DPP6_ENST00000377770.3_Silent_p.S113S|DPP6_ENST00000427557.1_Silent_p.S51S|DPP6_ENST00000406326.1_Silent_p.S113S|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Silent_p.S51S	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	113					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.S113S(2)|p.S49S(1)|p.S51S(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCGTCACCTCGGTCATACTTC	0.433000													23	57					1.64293e-13	2.58069e-13	0.018920	1	0
SOWAHB	345079	broad.mit.edu	37	4	77817998	77817998	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:77817998G>T	ENST00000334306.2	-	1	1004	c.1005C>A	c.(1003-1005)ttC>ttA	p.F335L		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	335								p.F335L(1)									GCAGCTGGAGGAAGTTGTCTG	0.642000													14	41					4.93089e-13	7.64178e-13	0.020292	1	0
CPA1	1357	broad.mit.edu	37	7	130025175	130025175	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:130025175C>A	ENST00000011292.3	+	8	1126	c.976C>A	c.(976-978)Cag>Aag	p.Q326K	CPA1_ENST00000484324.1_Missense_Mutation_p.Q238K	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	326					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.Q326K(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AGTCCCTGACCAGGATGAGCT	0.572000													54	36					8.52529e-16	1.40917e-15	0.014410	1	0
ZBTB25	7597	broad.mit.edu	37	14	64953726	64953726	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:64953726C>A	ENST00000394715.1	-	6	1924	c.1223G>T	c.(1222-1224)cGc>cTc	p.R408L	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000261683.2_Missense_Mutation_p.R408L			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	408						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R408L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TTGTGACAAGCGAGAACTTTT	0.443000													36	57					3.21399e-22	5.8097e-22	0.021022	1	0
SSSCA1	10534	broad.mit.edu	37	11	65338163	65338163	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:65338163G>A	ENST00000526877.1	+	2	113	c.108G>A	c.(106-108)cgG>cgA	p.R36R	SSSCA1_ENST00000531405.1_5'UTR|SSSCA1_ENST00000527920.1_5'UTR|SSSCA1_ENST00000309328.3_Silent_p.R36R			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	36					cell division|mitosis		protein binding	p.R36R(1)		kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						GCATCTCCCGGCTCATGGGCG	0.672000													17	13					0	0	0.004990	0	0
ALPK1	80216	broad.mit.edu	37	4	113332985	113332985	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:113332985G>C	ENST00000458497.1	+	5	558	c.279G>C	c.(277-279)gcG>gcC	p.A93A	ALPK1_ENST00000504176.2_Silent_p.A15A|ALPK1_ENST00000177648.9_Silent_p.A93A|ALPK1_ENST00000505912.1_3'UTR	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	93							ATP binding|protein serine/threonine kinase activity	p.A93A(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCCTCCAGGCGTCCCTGAGGG	0.592000													3	12					0	0	0.004672	0	0
CDH19	28513	broad.mit.edu	37	18	64211979	64211979	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:64211979C>T	ENST00000262150.2	-	6	1229	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	CDH19_ENST00000540086.1_Missense_Mutation_p.E313K	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	313	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E313K(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ACTATTCCTTCTTGAGTTTCA	0.308000													6	13					0	0	0.001984	0	0
NPR2	4882	broad.mit.edu	37	9	35792526	35792526	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:35792526G>A	ENST00000342694.2	+	1	376	c.121G>A	c.(121-123)Gcc>Acc	p.A41T		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	41					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	p.A41T(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTATGCCTGGGCCTGGCCACG	0.697000													10	9					0	0	0.010729	0	0
ACTL6A	86	broad.mit.edu	37	3	179291164	179291164	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:179291164C>A	ENST00000429709.2	+	4	498	c.285C>A	c.(283-285)gaC>gaA	p.D95E	ACTL6A_ENST00000450518.2_Missense_Mutation_p.D53E|ACTL6A_ENST00000392662.1_Missense_Mutation_p.D53E	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	95					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	p.D95E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TAGTTGAAGACTGGGATAGTT	0.348000													3	53					0.014758	0.0154389	0.014758	1	0
COLEC10	10584	broad.mit.edu	37	8	120118127	120118127	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:120118127G>A	ENST00000332843.2	+	6	572	c.531G>A	c.(529-531)agG>agA	p.R177R		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	177	C-type lectin.					collagen|cytoplasm	mannose binding	p.R177R(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CCCACTGCAGGATTCGGGGTG	0.507000													28	31					0	0	0.015359	0	0
SMC2	10592	broad.mit.edu	37	9	106901507	106901507	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:106901507G>T	ENST00000286398.7	+	25	3793	c.3505G>T	c.(3505-3507)Gcc>Tcc	p.A1169S	SMC2_ENST00000374787.3_Missense_Mutation_p.A1169S|SMC2_ENST00000374793.3_Missense_Mutation_p.A1169S	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1169					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	p.A1169S(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TTCTACAGTAGCCAGATTTAC	0.358000													20	25					5.03518e-11	7.30417e-11	0.007413	1	0
DYRK4	8798	broad.mit.edu	37	12	4700362	4700362	+	Missense_Mutation	SNP	C	C	A	rs111557443		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:4700362C>A	ENST00000540757.2	+	3	176	c.16C>A	c.(16-18)Ctc>Atc	p.L6I	DYRK4_ENST00000010132.5_Missense_Mutation_p.L6I|DYRK4_ENST00000543431.1_Missense_Mutation_p.L6I	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	6						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L408I(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GGCCTCAGAGCTCAAGGCTTC	0.483000													23	17					7.33532e-06	8.76373e-06	0.021523	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125281974	125281974	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:125281974G>A	ENST00000431078.1	+	9	1783	c.1419G>A	c.(1417-1419)ccG>ccA	p.P473P		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	473	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.P473P(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGCACCCCCGGCTCCAGACA	0.493000													11	17					0	0	0.008291	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177645	89177645	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:89177645C>A	ENST00000561129.2	+	1	691	c.561C>A	c.(559-561)gcC>gcA	p.A187A	TGIF2LX_ENST00000283891.5_Silent_p.A187A			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	187						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A187A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCGGAATAGCCCAGCCGAAGA	0.567000													4	21					0.000602214	0.00066537	0.014758	1	0
SPTBN1	6711	broad.mit.edu	37	2	54872432	54872432	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:54872432C>T	ENST00000333896.5	+	20	4682	c.4297C>T	c.(4297-4299)Ctg>Ttg	p.L1433L	SPTBN1_ENST00000356805.4_Silent_p.L1446L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1446					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.L1446L(1)|p.L1433L(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCCCAGGCCCTGAGTCAGGA	0.577000													18	73					0	0	0.004990	0	0
IGSF10	285313	broad.mit.edu	37	3	151162966	151162966	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:151162966G>T	ENST00000282466.3	-	4	4802	c.4803C>A	c.(4801-4803)tcC>tcA	p.S1601S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1601					cell differentiation|multicellular organismal development|ossification	extracellular region		p.S1601S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGTGGCCTCGGACAGGCCTG	0.443000													31	139					2.61193e-14	4.1976e-14	0.009535	1	0
ITGA4	3676	broad.mit.edu	37	2	182344887	182344887	+	Silent	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:182344887A>T	ENST00000397033.2	+	6	1078	c.648A>T	c.(646-648)ccA>ccT	p.P216P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	216					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.P216P(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGGGGGCCCCAGGATCATCTT	0.333000													13	29					0	0	0.020292	0	0
KDELC1	79070	broad.mit.edu	37	13	103446052	103446052	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:103446052C>A	ENST00000376004.4	-	3	829	c.493G>T	c.(493-495)Gca>Tca	p.A165S	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	165						endoplasmic reticulum lumen		p.A165S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGGAAATGTGCCAGATCTCTC	0.463000													80	93					9.11151e-29	1.72787e-28	0.014410	1	0
ACPP	55	broad.mit.edu	37	3	132075604	132075604	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:132075604G>T	ENST00000336375.5	+	10	1133	c.1043G>T	c.(1042-1044)aGc>aTc	p.S348I	ACPP_ENST00000475741.1_Missense_Mutation_p.S315I|ACPP_ENST00000351273.7_Missense_Mutation_p.S348I	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	348						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.S348I(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CCTGGCTGCAGCCCCAGCTGT	0.557000													7	143					3.86212e-05	4.45596e-05	0.008291	1	0
DCC	1630	broad.mit.edu	37	18	50432650	50432650	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:50432650C>A	ENST00000442544.2	+	3	1265	c.649C>A	c.(649-651)Cca>Aca	p.P217T	DCC_ENST00000412726.1_Missense_Mutation_p.P65T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	217	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P217T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTCGAAATCCAGCCAGCTC	0.483000													10	41					0.00829132	0.00877954	0.008291	1	0
HEPH	9843	broad.mit.edu	37	X	65428009	65428009	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:65428009T>C	ENST00000519389.1	+	15	2825	c.2646T>C	c.(2644-2646)aaT>aaC	p.N882N	HEPH_ENST00000336279.5_Silent_p.N561N|HEPH_ENST00000441993.2_Silent_p.N831N|HEPH_ENST00000374727.3_Silent_p.N831N|HEPH_ENST00000343002.2_Silent_p.N828N|HEPH_ENST00000419594.1_Silent_p.N639N			Q9BQS7	HEPH_HUMAN	hephaestin	828	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.N828N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TATTCAAGAATAATGCCAGCC	0.428000													8	9					0	0	0.004482	0	0
ATRX	546	broad.mit.edu	37	X	76889201	76889201	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:76889201C>A	ENST00000373344.5	-	18	5024		c.e18-1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(3)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AACTTACCACCTATAAGAAAA	0.308000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						6	23					0.0215528	0.02239	0.021553	1	0
TMEM51	55092	broad.mit.edu	37	1	15541749	15541749	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:15541749G>C	ENST00000428417.1	+	2	612	c.166G>C	c.(166-168)Ggc>Cgc	p.G56R	TMEM51_ENST00000434578.2_Missense_Mutation_p.G56R|TMEM51_ENST00000400796.3_Missense_Mutation_p.G56R|TMEM51_ENST00000376008.2_Missense_Mutation_p.G56R|TMEM51_ENST00000376014.3_Missense_Mutation_p.G56R	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	56						integral to membrane		p.G56R(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GGTGGGTGGCGGCATCCTCAA	0.607000													48	101					0	0	0.014410	0	0
OR52E8	390079	broad.mit.edu	37	11	5878090	5878090	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:5878090T>A	ENST00000537935.1	-	1	874	c.843A>T	c.(841-843)ttA>ttT	p.L281F	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L281F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGGTTGGCTAATATAATAT	0.393000													32	93					0	0	0.010818	0	0
TRRAP	8295	broad.mit.edu	37	7	98508005	98508005	+	Silent	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:98508005A>C	ENST00000359863.4	+	15	1886	c.1677A>C	c.(1675-1677)acA>acC	p.T559T	TRRAP_ENST00000446306.3_Silent_p.T559T|TRRAP_ENST00000355540.3_Silent_p.T559T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	559					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.T559T(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGTCAAGACAATCACGTGGG	0.418000													7	333					0	0	0.004482	0	0
FAT4	79633	broad.mit.edu	37	4	126369620	126369620	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:126369620C>T	ENST00000394329.3	+	9	7462	c.7449C>T	c.(7447-7449)tcC>tcT	p.S2483S	FAT4_ENST00000335110.5_Silent_p.S781S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2483	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S2483S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTATAGGTTCCTTTGTCTTTG	0.353000													11	101					0	0	0.016723	0	0
ATRX	546	broad.mit.edu	37	X	76953071	76953071	+	Splice_Site	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:76953071C>A	ENST00000373344.5	-	4	456	c.242_splice	c.e4+1	p.R81_splice	ATRX_ENST00000395603.3_Splice_Site_p.R81_splice|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000373341.1_Splice_Site_p.R42_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	81					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R81M(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATCAACCAACCTCTTTGATCG	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						13	82					1.62849e-17	2.78902e-17	0.028581	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140754620	140754620	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:140754620G>T	ENST00000517434.1	+	1	970	c.970G>T	c.(970-972)Ggg>Tgg	p.G324W	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.G324W(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCGGGATGGGCCAGGTCT	0.408000													56	77					3.63617e-18	6.2583e-18	0.014410	1	0
DCDC1	341019	broad.mit.edu	37	11	30925158	30925158	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:30925158G>T	ENST00000597505.1	-	30	4380	c.4381C>A	c.(4381-4383)Cca>Aca	p.P1461T	DCDC1_ENST00000339794.5_Missense_Mutation_p.P540T|DCDC1_ENST00000406071.2_Missense_Mutation_p.P196T			P59894	DCDC1_HUMAN	doublecortin domain containing 1	222					intracellular signal transduction			p.P540S(1)|p.P148T(1)|p.P148S(1)|p.P540T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTAAAGATTGGGGTTCCATCT	0.443000													3	18					6.4e-05	7.32091e-05	0.004672	1	0
GCC2	9648	broad.mit.edu	37	2	109067569	109067569	+	Splice_Site	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:109067569G>C	ENST00000309863.6	+	3	862		c.e3+1			NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2						Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.?(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGGTGTACAGGTATTGGGTTG	0.358000													10	33					0	0	0.006214	0	0
CCDC30	728621	broad.mit.edu	37	1	43108212	43108212	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:43108212G>T	ENST00000428554.2	+	19	2850	c.1707G>T	c.(1705-1707)caG>caT	p.Q569H	CCDC30_ENST00000507855.1_Missense_Mutation_p.Q358H|CCDC30_ENST00000340612.4_Missense_Mutation_p.Q569H|CCDC30_ENST00000390640.4_Missense_Mutation_p.Q358H|CCDC30_ENST00000342022.4_Missense_Mutation_p.Q569H			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	569								p.Q569H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GGAAACTTCAGGAGCAAGTCA	0.458000													52	132					9.79885e-19	1.70053e-18	0.014410	1	0
FBN2	2201	broad.mit.edu	37	5	127648464	127648464	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:127648464G>T	ENST00000508053.1	-	43	5715	c.4741C>A	c.(4741-4743)Ctg>Atg	p.L1581M	FBN2_ENST00000262464.4_Missense_Mutation_p.L1581M			P35556	FBN2_HUMAN	fibrillin 2	1581	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.L1581M(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCAAACTTCAGGTAGCAGTTG	0.522000													80	93					6.71967e-41	1.32238e-40	0.014410	1	0
RP1L1	94137	broad.mit.edu	37	8	10468596	10468596	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:10468596C>A	ENST00000382483.3	-	4	3235	c.3012G>T	c.(3010-3012)ggG>ggT	p.G1004G		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1004					intracellular signal transduction			p.G1004V(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGCTGGCTCCCCCAGGCCTT	0.662000													21	38					0.012319	0.0129654	0.012319	1	0
SPRED1	161742	broad.mit.edu	37	15	38591588	38591588	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:38591588G>T	ENST00000299084.4	+	2	907	c.47G>T	c.(46-48)cGa>cTa	p.R16L	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	16	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	p.R16L(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGTTATGCACGAGTGCGAGCT	0.438000									Legius syndrome				4	55					0.00909568	0.00959231	0.009096	1	0
DLG5	9231	broad.mit.edu	37	10	79603414	79603414	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:79603414C>A	ENST00000372391.2	-	6	920	c.915G>T	c.(913-915)acG>acT	p.T305T	DLG5_ENST00000372388.2_Silent_p.T305T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	305					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.T305T(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGTCCATGGCCGTGTCATACA	0.542000													19	132					2.94398e-08	3.82865e-08	0.007413	1	0
CCDC93	54520	broad.mit.edu	37	2	118753904	118753904	+	Missense_Mutation	SNP	T	T	A	rs113727191		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:118753904T>A	ENST00000376300.2	-	5	535	c.398A>T	c.(397-399)gAg>gTg	p.E133V	CCDC93_ENST00000319432.5_Missense_Mutation_p.E133V|AC009303.1_ENST00000585381.2_RNA|AC009303.1_ENST00000413179.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	133								p.E133V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GTCACCCATCTCTTCTTTTGT	0.448000													14	38					0	0	0.028581	0	0
CUX2	23316	broad.mit.edu	37	12	111748370	111748370	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:111748370C>A	ENST00000261726.6	+	15	1938	c.1784C>A	c.(1783-1785)cCc>cAc	p.P595H		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	595						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P595H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTAGCCCGGCCCAAGCCCTGG	0.602000													39	59					1.07121e-22	1.94986e-22	0.027894	1	0
ZNF287	57336	broad.mit.edu	37	17	16456684	16456684	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:16456684T>C	ENST00000395824.1	-	6	1389	c.772A>G	c.(772-774)Aag>Gag	p.K258E	ZNF287_ENST00000395825.3_Missense_Mutation_p.K258E			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	251					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K251E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GTTTCTTCCTTTGTGAGTTTA	0.358000													70	70					0	0	0.014410	0	0
VSIG2	23584	broad.mit.edu	37	11	124618406	124618406	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:124618406C>T	ENST00000403470.1	-	6	786	c.731G>A	c.(730-732)gGa>gAa	p.G244E	VSIG2_ENST00000326621.5_Missense_Mutation_p.G244E			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	244						integral to plasma membrane|membrane fraction		p.G244E(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AATCAGAGCTCCGGCCACTCG	0.592000													18	18					0	0	0.006122	0	0
MCU	90550	broad.mit.edu	37	10	74628615	74628615	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:74628615G>C	ENST00000536019.1	+	5	949	c.504G>C	c.(502-504)ctG>ctC	p.L168L	MCU_ENST00000373053.3_Silent_p.L217L|MCU_ENST00000357157.6_Intron|MCU_ENST00000605416.1_3'UTR	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	217					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	p.L217L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						TGGCTCCCCTGGAAAAGGTAA	0.388000													5	45					0	0	0.014758	0	0
PASD1	139135	broad.mit.edu	37	X	150832785	150832785	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:150832785T>A	ENST00000370357.4	+	11	1281	c.1036T>A	c.(1036-1038)Tca>Aca	p.S346T		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	346						nucleus	signal transducer activity	p.S346T(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGAGGACTCAGTGGACCT	0.587000													7	63					0	0	0.004482	0	0
CFHR1	3078	broad.mit.edu	37	1	196796100	196796100	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:196796100G>C	ENST00000320493.5	+	3	483	c.395G>C	c.(394-396)cGg>cCg	p.R132P	CFHR1_ENST00000367424.3_Missense_Mutation_p.R132P|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000498248.1_3'UTR	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	132	Sushi 2.				complement activation	extracellular space		p.R132P(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TGTGTAGAACGGGGCTGGTCC	0.393000													28	58					0	0	0.009535	0	0
BRAT1	221927	broad.mit.edu	37	7	2593983	2593983	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:2593983C>A	ENST00000340611.4	-	2	339	c.83G>T	c.(82-84)tGt>tTt	p.C28F		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	28					response to ionizing radiation	nucleus	protein binding	p.C28F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CTTCTCCAAACAGGTGTCATC	0.592000													26	87					3.65163e-15	5.96967e-15	0.006320	1	0
CDH23	64072	broad.mit.edu	37	10	73468918	73468918	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:73468918G>A	ENST00000224721.6	+	26	3190	c.3185G>A	c.(3184-3186)gGc>gAc	p.G1062D		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1057	Cadherin 10.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.G1062D(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCGTGGTGGGCCTGGACCGG	0.612000													3	45					0	0	0.004672	0	0
PLEC	5339	broad.mit.edu	37	8	144997654	144997654	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:144997654C>T	ENST00000322810.4	-	31	7023	c.6854G>A	c.(6853-6855)cGg>cAg	p.R2285Q	PLEC_ENST00000527096.1_Missense_Mutation_p.R2171Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R2148Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R2148Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R2134Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R2175Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R2152Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2126Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2116Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2285	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.R2148Q(1)|p.R2175Q(1)|p.R2285Q(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGTGCCCGCCGCGCCGCCTC	0.687000													6	6					0	0	0.004482	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43658617	43658617	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:43658617G>C	ENST00000396976.2	-	3	1047	c.913C>G	c.(913-915)Ctc>Gtc	p.L305V	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.L304V	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	305					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L305V(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCTTCTGGAGACCTTTGAAC	0.562000													8	60					0	0	0.003080	0	0
NUP205	23165	broad.mit.edu	37	7	135310997	135310997	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:135310997A>T	ENST00000285968.6	+	33	4707	c.4681A>T	c.(4681-4683)Aca>Tca	p.T1561S		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1561					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.T1561S(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GGCATTTCTCACAAGAGTGGC	0.448000													5	111					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179434396	179434396	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179434396C>A	ENST00000589042.1	-	326	76687	c.76463G>T	c.(76462-76464)gGa>gTa	p.G25488V	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23847V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G22920V|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16548V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16615V|TTN_ENST00000460472.2_Missense_Mutation_p.G16423V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23847	Fibronectin type-III 85.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G16423V(1)|p.G16548V(1)|p.G22920V(1)|p.G22918V(1)|p.G16615V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCCAACTCCAGCTTTATT	0.368000													8	26					5.4927e-09	7.33533e-09	0.004482	1	0
MAGEB4	4115	broad.mit.edu	37	X	30260998	30260998	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:30260998T>A	ENST00000378982.2	+	1	942	c.746T>A	c.(745-747)cTg>cAg	p.L249Q		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	249	MAGE.							p.L249Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						ACCCAAGATCTGGTACAGGAA	0.493000													9	41					0	0	0.006214	0	0
PLXNA4	91584	broad.mit.edu	37	7	131913111	131913111	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:131913111G>T	ENST00000359827.3	-	6	2684	c.1722C>A	c.(1720-1722)aaC>aaA	p.N574K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.N574K			Q9HCM2	PLXA4_HUMAN	plexin A4	574						integral to membrane|intracellular|plasma membrane		p.N574N(2)|p.N574K(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTACCAGCACGTTGTACTGAG	0.592000													11	40					0.000978159	0.00107166	0.010729	1	0
LRRC30	339291	broad.mit.edu	37	18	7231772	7231772	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:7231772G>C	ENST00000383467.2	+	1	650	c.636G>C	c.(634-636)caG>caC	p.Q212H		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	212								p.Q212H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCAGCCTGCAGATCTTCATCG	0.547000													18	24					0	0	0.010504	0	0
DMRT3	58524	broad.mit.edu	37	9	977258	977258	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:977258T>G	ENST00000190165.2	+	1	295	c.257T>G	c.(256-258)cTc>cGc	p.L86R		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	86					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.L86R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TTGGAGAGCCTCATCCCCGAC	0.741000													7	13					0	0	0.003080	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098546	220098546	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:220098546A>C	ENST00000323348.5	+	8	1103	c.929A>C	c.(928-930)aAg>aCg	p.K310T	ANKZF1_ENST00000409849.1_Missense_Mutation_p.K100T|ANKZF1_ENST00000410034.3_Missense_Mutation_p.K310T	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	310						intracellular	zinc ion binding	p.K310T(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTGGAGGCAAGGGAGCACCC	0.622000													16	54					0	0	0.006122	0	0
ADCY5	111	broad.mit.edu	37	3	123166346	123166346	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:123166346G>T	ENST00000462833.1	-	1	2259	c.1047C>A	c.(1045-1047)gcC>gcA	p.A349A		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	349					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.A349A(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGAGCACTGCGGCCCGCATGC	0.682000													10	28					2.68362e-12	4.05654e-12	0.013537	1	0
MRGPRX3	117195	broad.mit.edu	37	11	18159298	18159298	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:18159298G>T	ENST00000396275.2	+	3	910	c.549G>T	c.(547-549)tgG>tgT	p.W183C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	183						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W183C(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAATCGCGTGGCTGGTTTTTT	0.512000													6	101					8.12818e-05	9.21489e-05	0.001984	1	0
SLC38A1	81539	broad.mit.edu	37	12	46592512	46592512	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:46592512C>A	ENST00000398637.5	-	14	1712	c.1018G>T	c.(1018-1020)Gac>Tac	p.D340Y	SLC38A1_ENST00000439706.1_Missense_Mutation_p.D340Y|SLC38A1_ENST00000549049.1_Missense_Mutation_p.D340Y|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D340Y|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Missense_Mutation_p.D340Y	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	340					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	p.D340Y(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TGAAGGAGGTCGGACTGCACG	0.408000													37	57					1.57945e-13	2.48848e-13	0.011902	1	0
MAPK4	5596	broad.mit.edu	37	18	48255621	48255621	+	Silent	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:48255621G>C	ENST00000400384.2	+	6	2197	c.1161G>C	c.(1159-1161)gcG>gcC	p.A387A	MAPK4_ENST00000540640.1_Silent_p.A176A|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	387					cell cycle		ATP binding|MAP kinase activity	p.A387A(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGGGTTCGGCGCCACTGGCTG	0.697000													6	12					0	0	0.021553	0	0
CFH	3075	broad.mit.edu	37	1	196706738	196706738	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:196706738A>C	ENST00000367429.4	+	17	2970	c.2730A>C	c.(2728-2730)gaA>gaC	p.E910D		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	910	Sushi 15.				complement activation, alternative pathway	extracellular space		p.E910D(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TATCTGAAGAAAATGAAACAA	0.368000													8	37					0	0	0.004482	0	0
AP3M2	10947	broad.mit.edu	37	8	42012412	42012412	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:42012412G>T	ENST00000518421.1	+	3	498	c.207G>T	c.(205-207)gtG>gtT	p.V69V	AP3M2_ENST00000396926.3_Silent_p.V69V|AP3M2_ENST00000174653.3_Silent_p.V69V|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000517922.1_Silent_p.V69V	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	69					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		p.V69V(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TTGTGGCCGTGATCCAGACGG	0.473000													9	46					0.000274275	0.000304978	0.004482	1	0
ST8SIA6	338596	broad.mit.edu	37	10	17363209	17363209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:17363209C>A	ENST00000377602.4	-	8	939	c.865G>T	c.(865-867)Gag>Tag	p.E289*		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	289					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.E289*(2)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						GCTTTAGACTCTTCGAGCGTG	0.448000													46	111					8.20599e-20	1.43846e-19	0.011902	1	0
FAM47A	158724	broad.mit.edu	37	X	34150342	34150342	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:34150342C>T	ENST00000346193.3	-	1	105	c.54G>A	c.(52-54)aaG>aaA	p.K18K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	18								p.K18K(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGTACCAGGGCTTGGAGTCCA	0.612000													19	39					0	0	0.007413	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318872	21318872	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:21318872C>A	ENST00000583088.1	+	3	1113	c.218C>A	c.(217-219)aCc>aAc	p.T73N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T73N	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.T73N(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GACATGTTCACCACCTGTGTG	0.577000										Prostate(3;0.18)			9	50					2.17888e-05	2.57078e-05	0.006214	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011394	105011394	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:105011394G>A	ENST00000372582.1	+	11	2557	c.1801G>A	c.(1801-1803)Gct>Act	p.A601T	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A601T|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.A206T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	601					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.A601T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTCATCTCAGGCTGATCTCCC	0.488000													14	91					0	0	0.020292	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70521649	70521649	+	Translation_Start_Site	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:70521649A>T	ENST00000538820.1	+	0	13				ITGB1BP2_ENST00000373829.3_De_novo_Start_OutOfFrame			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2						muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CATTCAACCAACGCTTCCATG	0.512000													26	37					0	0	0.006320	0	0
RTN3	10313	broad.mit.edu	37	11	63487649	63487649	+	Missense_Mutation	SNP	G	G	T	rs150093726		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:63487649G>T	ENST00000377819.5	+	3	1829	c.1675G>T	c.(1675-1677)Gtc>Ttc	p.V559F	RTN3_ENST00000540798.1_Missense_Mutation_p.V447F|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.V540F|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	559					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		p.L539_V540>FF(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGAAGAATTGGTCAGTGACTC	0.408000													34	28					6.53348e-20	1.14914e-19	0.017118	1	0
LRP1	4035	broad.mit.edu	37	12	57606328	57606328	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:57606328C>T	ENST00000243077.3	+	89	14091	c.13625C>T	c.(13624-13626)cCc>cTc	p.P4542L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4542	Interaction with MAFB (By similarity).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.P4542L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATAGGGGACCCCTTGGCATAG	0.677000													12	35					0	0	0.013537	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745167	140745167	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:140745167G>C	ENST00000518069.1	+	1	1270	c.1270G>C	c.(1270-1272)Gtc>Ctc	p.V424L	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.V424L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTTTAACCGTCATGGACCA	0.438000													36	38					0	0	0.013726	0	0
GABRA2	2555	broad.mit.edu	37	4	46252334	46252334	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:46252334G>T	ENST00000510861.1	-	10	1520	c.1347C>A	c.(1345-1347)gtC>gtA	p.V449V	GABRA2_ENST00000356504.1_Silent_p.V449V|GABRA2_ENST00000514090.1_Silent_p.V449V|GABRA2_ENST00000540012.1_Silent_p.V454V|GABRA2_ENST00000507069.1_Silent_p.V509V|GABRA2_ENST00000381620.4_Silent_p.V449V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	449					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V449V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCAAGGACTGACCCCTAATA	0.338000													8	60					0.00448238	0.004795	0.004482	1	0
LRRC7	57554	broad.mit.edu	37	1	70505385	70505385	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:70505385C>A	ENST00000310961.5	+	22	4197	c.3779C>A	c.(3778-3780)aCt>aAt	p.T1260N	LRRC7_ENST00000035383.5_Missense_Mutation_p.T1255N|LRRC7_ENST00000415775.2_Missense_Mutation_p.T539N			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1255						centrosome|focal adhesion|nucleolus	protein binding	p.T1255N(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACGAGGCCTACTCCTGTGAAG	0.448000													14	77					0.000151284	0.000170583	0.016723	1	0
MYCN	4613	broad.mit.edu	37	2	16085778	16085778	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:16085778G>T	ENST00000281043.3	+	3	1251	c.954G>T	c.(952-954)ctG>ctT	p.L318L		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	318					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L318L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCAGCGAGCTGATCCTCAAAC	0.592000			A		neuroblastoma								10	15					3.07112e-06	3.72462e-06	0.010729	1	0
SNHG14	104472715	broad.mit.edu	37	15	25470426	25470426	+	RNA	SNP	A	A	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:25470426A>C	ENST00000453082.2	+	0	1061				SNORD115-30_ENST00000364117.1_RNA	NR_003343.1																						GATTACGCTGAGGCCCAGCCT	0.498000													9	137					0	0	0.006214	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907903	12907903	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:12907903T>C	ENST00000317869.6	-	2	465	c.240A>G	c.(238-240)gtA>gtG	p.V80V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.V80V(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGTTAATATCTACAACCTGGC	0.488000													12	185					0	0	0.010729	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995501	57995501	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:57995501A>T	ENST00000316770.2	-	1	889	c.847T>A	c.(847-849)Tac>Aac	p.Y283N		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y283N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				ACAAAGGTGTAGACCAACGCG	0.552000													14	83					0	0	0.016723	0	0
SLC6A15	55117	broad.mit.edu	37	12	85260837	85260837	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:85260837A>T	ENST00000266682.5	-	10	2172	c.1631T>A	c.(1630-1632)gTa>gAa	p.V544E	SLC6A15_ENST00000552192.1_Missense_Mutation_p.V437E|SLC6A15_ENST00000309283.7_Missense_Mutation_p.V252E	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	544					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.V544E(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AACAAAGCATACAGCAATATT	0.294000													10	27					0	0	0.013537	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629686	122629686	+	Splice_Site	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:122629686C>G	ENST00000195173.4	-	22	3726		c.e22+1		SEMA5B_ENST00000451055.2_Splice_Site|SEMA5B_ENST00000357599.3_Splice_Site			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B						cell differentiation|nervous system development	integral to membrane	receptor activity	p.?(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		aaGGCTCCCACCTTGAATTCC	0.532000													32	24					0	0	0.015359	0	0
COL5A3	50509	broad.mit.edu	37	19	10091370	10091370	+	Splice_Site	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:10091370T>C	ENST00000264828.3	-	35	2645		c.e35-2			NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3						collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.?(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CACATCGCCCTAGGACAGAGT	0.562000													5	15					0	0	0.003080	0	0
EXOC3	11336	broad.mit.edu	37	5	457103	457103	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:457103G>T	ENST00000512944.1	+	5	1335	c.1146G>T	c.(1144-1146)acG>acT	p.T382T	EXOC3_ENST00000315013.5_Silent_p.T382T	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	393					exocytosis|protein transport			p.T382T(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGCTTGACACGTACATGTCCA	0.587000													21	22					5.26018e-13	8.14001e-13	0.012319	1	0
FAM47C	442444	broad.mit.edu	37	X	37028757	37028757	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:37028757C>G	ENST00000358047.3	+	1	2326	c.2274C>G	c.(2272-2274)cgC>cgG	p.R758R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	758								p.R758R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTGAGACTCGCGTATCTCATC	0.632000													19	27					0	0	0.012319	0	0
ZNF138	7697	broad.mit.edu	37	7	64292490	64292490	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:64292490G>T	ENST00000359735.3	+	4	1046	c.699G>T	c.(697-699)caG>caT	p.Q233H	ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000437743.1_Missense_Mutation_p.Q258H|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000397136.2_Missense_Mutation_p.Q233H|ZNF138_ENST00000440155.2_Missense_Mutation_p.Q264H|ZNF138_ENST00000307355.7_Missense_Mutation_p.Q290H	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	264					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.Q233H(1)|p.Q264H(1)		kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				TCTTTAAGCAGTCCCCAACCC	0.378000													12	33					2.27111e-07	2.85394e-07	0.013537	1	0
TTYH2	94015	broad.mit.edu	37	17	72240154	72240154	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:72240154G>T	ENST00000269346.4	+	6	844	c.770G>T	c.(769-771)tGg>tTg	p.W257L	TTYH2_ENST00000529107.1_Missense_Mutation_p.W236L|TTYH2_ENST00000534346.1_3'UTR	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	257						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.W257L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTCCTCAGTTGGGCATCCCTG	0.652000													8	52					0.000442599	0.000490054	0.006214	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821809	5821809	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:5821809C>T	ENST00000381095.3	-	5	1537	c.910G>A	c.(910-912)Gtc>Atc	p.V304I	NLGN4X_ENST00000275857.6_Missense_Mutation_p.V304I|NLGN4X_ENST00000381093.2_Missense_Mutation_p.V324I|NLGN4X_ENST00000381092.1_Missense_Mutation_p.V304I|NLGN4X_ENST00000538097.1_Missense_Mutation_p.V304I	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	304					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.V304I(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TTGCAGCCGACCTTGTCTGCC	0.577000													16	63					0	0	0.007413	0	0
DMD	1756	broad.mit.edu	37	X	32591898	32591898	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:32591898G>A	ENST00000357033.4	-	14	1874	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	DMD_ENST00000378677.2_Silent_p.D552D|DMD_ENST00000288447.4_Silent_p.D548D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	556					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.D551D(1)|p.D556D(1)|p.D552D(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGAGAAGGATGTCTTGTAAAA	0.433000													5	28					0	0	0.014758	0	0
SMAD3	4088	broad.mit.edu	37	15	67457257	67457257	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:67457257G>T	ENST00000559092.1	+	2	468	c.176G>T	c.(175-177)tGt>tTt	p.C59F	SMAD3_ENST00000540846.2_5'UTR|SMAD3_ENST00000439724.3_Silent_p.V33V|SMAD3_ENST00000327367.4_Silent_p.V77V			P84022	SMAD3_HUMAN	SMAD family member 3	0	MH1.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	p.V77V(1)|p.V33V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GGTTGCAGGTGTCCCATCGGA	0.617000													16	203					7.07596e-05	8.06582e-05	0.006122	1	0
MXRA5	25878	broad.mit.edu	37	X	3240386	3240386	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:3240386C>A	ENST00000217939.6	-	5	3494	c.3340G>T	c.(3340-3342)Gaa>Taa	p.E1114*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1114						extracellular region		p.E1114*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACTGTGGTTTCCGCAGGCTTC	0.493000													26	40					2.41591e-17	4.1039e-17	0.024334	1	0
SIRPG	55423	broad.mit.edu	37	20	1629708	1629708	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:1629708C>A	ENST00000381580.1	-	2	500	c.321G>T	c.(319-321)atG>atT	p.M107I	SIRPG_ENST00000216927.4_Missense_Mutation_p.M140I|SIRPG_ENST00000344103.4_Missense_Mutation_p.M140I|SIRPG_ENST00000381583.2_Missense_Mutation_p.M140I|SIRPG_ENST00000303415.3_Missense_Mutation_p.M140I			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	140	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	p.M140I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CACCCAAAGCCATCTCAGTGC	0.488000													23	85					3.28513e-13	5.10639e-13	0.021523	1	0
ZNF516	9658	broad.mit.edu	37	18	74154222	74154222	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:74154222C>A	ENST00000443185.2	-	3	1106	c.789G>T	c.(787-789)ctG>ctT	p.L263L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L263P(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGTGCGCCTTCAGGAACCAGG	0.652000													5	21					3.59834e-05	4.19806e-05	0.021553	1	0
SI	6476	broad.mit.edu	37	3	164737500	164737500	+	Missense_Mutation	SNP	G	G	A	rs138397431	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:164737500G>A	ENST00000264382.3	-	28	3375	c.3313C>T	c.(3313-3315)Cgc>Tgc	p.R1105C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1105	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R1105C(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GATGGCAGGCGAGTCGATATT	0.383000										HNSCC(35;0.089)			5	60					0	0	0.014758	0	0
CNTN6	27255	broad.mit.edu	37	3	1444003	1444003	+	Splice_Site	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:1444003T>A	ENST00000446702.2	+	22	3446	c.2817_splice	c.e22-1	p.I940_splice	CNTN6_ENST00000350110.2_Splice_Site_p.I940_splice|CNTN6_ENST00000539053.1_Splice_Site_p.I868_splice			Q9UQ52	CNTN6_HUMAN	contactin 6	940	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.I940N(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTTATTCAGATTCTGTACCGG	0.348000													17	35					0	0	0.007413	0	0
SEMA6D	80031	broad.mit.edu	37	15	48052531	48052531	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:48052531G>A	ENST00000316364.5	+	3	579	c.140G>A	c.(139-141)cGc>cAc	p.R47H	SEMA6D_ENST00000536845.2_Missense_Mutation_p.R47H|SEMA6D_ENST00000389425.3_Missense_Mutation_p.R47H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R47H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R47H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R47H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R47H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R47H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R47H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R47H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R47H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R47H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	47	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.R47H(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTTAGAGGACGCCCTTCAGGC	0.423000													14	28					0	0	0.020292	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854318	12854318	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:12854318G>T	ENST00000332296.7	+	3	645	c.542G>T	c.(541-543)tGc>tTc	p.C181F		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	181								p.C181F(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTACACCTGTGCTGTAGTAAG	0.403000													9	654					5.04308e-16	8.38905e-16	0.025465	1	0
GLTSCR1L	23506	broad.mit.edu	37	6	42832695	42832695	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:42832695G>T	ENST00000314073.5	+	13	2927	c.2751G>T	c.(2749-2751)acG>acT	p.T917T	GLTSCR1L_ENST00000394168.1_Silent_p.T917T					GLTSCR1-like									p.T917T(1)									ACCAGAGCACGTCTGAAGAGA	0.522000													25	13					3.28513e-13	5.10639e-13	0.021523	1	0
DIRC1	116093	broad.mit.edu	37	2	189599535	189599535	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:189599535G>C	ENST00000308100.4	-	2	383	c.113C>G	c.(112-114)cCc>cGc	p.P38R	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	38								p.P38R(1)		large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			TATACACATGGGGTGGGCATT	0.473000													26	96					0	0	0.006320	0	0
COL6A5	256076	broad.mit.edu	37	3	130188091	130188091	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:130188091G>T	ENST00000265379.6	+	38	7737	c.7243G>T	c.(7243-7245)Gct>Tct	p.A2415S	COL6A5_ENST00000432398.2_Missense_Mutation_p.A2415S			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2415	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen		p.A454S(1)|p.A2415S(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGTAATATCTGCTGGCGAAAC	0.413000													27	77					1.17739e-12	1.80857e-12	0.027356	1	0
RHCG	51458	broad.mit.edu	37	15	90021158	90021158	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:90021158G>T	ENST00000268122.4	-	6	953	c.885C>A	c.(883-885)acC>acA	p.T295T	RHCG_ENST00000544600.1_Silent_p.T295T	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	295					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.T295T(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TCTCAGCAGCGGTACCCACGG	0.617000													9	33					5.16669e-11	7.47414e-11	0.010729	1	0
COL1A2	1278	broad.mit.edu	37	7	94024365	94024365	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:94024365C>A	ENST00000297268.6	+	1	493	c.22C>A	c.(22-24)Cgg>Agg	p.R8R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	8					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.R8R(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGTGGATACGCGGACTTTGTT	0.552000										HNSCC(75;0.22)	OREG0018169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	72					6.29468e-14	1.00388e-13	0.021022	1	0
CUBN	8029	broad.mit.edu	37	10	16957942	16957942	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr10:16957942C>A	ENST00000377833.4	-	46	7153	c.7088G>T	c.(7087-7089)tGt>tTt	p.C2363F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2363	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.C2363F(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGCCACTCACAGAATAAGTT	0.448000													14	45					6.94344e-10	9.66891e-10	0.006122	1	0
ZNF695	57116	broad.mit.edu	37	1	247150365	247150365	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:247150365T>A	ENST00000339986.7	-	4	1599	c.1452A>T	c.(1450-1452)acA>acT	p.T484T	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	484					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.T484T(1)		endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGTATGAATTGTCTTATGTT	0.398000													19	30					0	0	0.007413	0	0
PRDM11	56981	broad.mit.edu	37	11	45117403	45117403	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:45117403G>T	ENST00000263765.4	+	2	296	c.47G>T	c.(46-48)tGc>tTc	p.C16F	PRDM11_ENST00000530656.1_Missense_Mutation_p.C16F			Q9NQV5	PRD11_HUMAN	PR domain containing 11	16								p.C16F(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						atcgtggagtgccgggcctgc	0.517000													14	78					4.7546e-09	6.39053e-09	0.028581	1	0
PPFIA2	8499	broad.mit.edu	37	12	81734915	81734915	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:81734915G>T	ENST00000550584.2	-	19	2630	c.2335C>A	c.(2335-2337)Cct>Act	p.P779T	PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P626T|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P761T|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P779T|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P779T|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P346T|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P680T|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P705T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P761T|PPFIA2_ENST00000549396.1_Missense_Mutation_p.P779T	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	705								p.P779S(1)|p.P779T(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGGGCTCTAGGGGTAGGAGGA	0.453000													10	47					0.00136819	0.00149427	0.013537	1	0
FBXL7	23194	broad.mit.edu	37	5	15616169	15616169	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:15616169G>C	ENST00000504595.1	+	2	596	c.115G>C	c.(115-117)Gct>Cct	p.A39P	FBXL7_ENST00000329673.7_Missense_Mutation_p.A27P|FBXL7_ENST00000510662.1_5'UTR	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	39					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.A39P(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GAAGAATGTGGCTACCAGCGA	0.473000													10	25					0	0	0.008291	0	0
SLC43A2	124935	broad.mit.edu	37	17	1494602	1494602	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:1494602T>A	ENST00000571650.1	-	8	1198	c.892A>T	c.(892-894)Acc>Tcc	p.T298S	SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000412517.3_Missense_Mutation_p.T161S|SLC43A2_ENST00000382147.4_Missense_Mutation_p.T298S|SLC43A2_ENST00000301335.4_Missense_Mutation_p.T298S			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	298					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		p.T298S(1)		endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		AGGTCGACGGTGGACAGGCAC	0.692000													23	29					0	0	0.018920	0	0
ASTN2	23245	broad.mit.edu	37	9	119625959	119625959	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:119625959G>C	ENST00000313400.4	-	11	2043	c.1943C>G	c.(1942-1944)tCc>tGc	p.S648C	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S597C|ASTN2_ENST00000373996.3_Missense_Mutation_p.S644C			O75129	ASTN2_HUMAN	astrotactin 2	648						integral to membrane		p.S597C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGGCCCGAAGGAAGACAGCAG	0.522000													17	15					0	0	0.004990	0	0
MCHR2	84539	broad.mit.edu	37	6	100395640	100395640	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:100395640G>A	ENST00000281806.2	-	3	704	c.390C>T	c.(388-390)gaC>gaT	p.D130D	MCHR2_ENST00000445970.1_Silent_p.D130D|MCHR2_ENST00000369212.1_Silent_p.D130D	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	130						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D130D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCACTTACCTGTCCACACTCA	0.443000													60	94					0	0	0.014410	0	0
UTP6	55813	broad.mit.edu	37	17	30207728	30207728	+	Silent	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:30207728C>A	ENST00000261708.4	-	11	968	c.831G>T	c.(829-831)gtG>gtT	p.V277V	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	277					rRNA processing	nucleolus	binding	p.V277V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CTCGCCTTGCCACATAATCCC	0.463000													20	137					1.96292e-10	2.77792e-10	0.010504	1	0
SMU1	55234	broad.mit.edu	37	9	33071822	33071822	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:33071822G>A	ENST00000397149.3	-	3	356	c.306C>T	c.(304-306)ccC>ccT	p.P102P	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	102						cytoplasm|nucleus		p.P102P(2)		endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		ACATGATCATGGGATCAGTCT	0.418000													50	42					0	0	0.014410	0	0
ITPKB	3707	broad.mit.edu	37	1	226923458	226923458	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:226923458C>G	ENST00000429204.1	-	2	2029	c.1702G>C	c.(1702-1704)Gct>Cct	p.A568P	ITPKB_ENST00000366784.1_Missense_Mutation_p.A568P|ITPKB_ENST00000272117.3_Missense_Mutation_p.A568P	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	568							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.A94P(1)|p.A568P(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				ATGATGACAGCAGGTATGTTG	0.617000													8	18					0	0	0.003080	0	0
SLC38A1	81539	broad.mit.edu	37	12	46592513	46592513	+	Silent	SNP	G	G	A	rs138242331	by1000genomes	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:46592513G>A	ENST00000398637.5	-	14	1711	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	SLC38A1_ENST00000439706.1_Silent_p.S339S|SLC38A1_ENST00000549049.1_Silent_p.S339S|SLC38A1_ENST00000546893.1_Silent_p.S339S|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Silent_p.S339S	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	339					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	p.D340Y(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GAAGGAGGTCGGACTGCACGT	0.408000													38	59					0	0	0.013114	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455480	84455480	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:84455480C>A	ENST00000377084.2	-	1	1048	c.163G>T	c.(163-165)Gcc>Tcc	p.A55S		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	55	LRRNT.					integral to membrane		p.A55S(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAAGTCGGGGCAGTGAAACGC	0.443000													38	43					1.02591e-13	1.6237e-13	0.010771	1	0
FLT1	2321	broad.mit.edu	37	13	28877397	28877397	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:28877397G>T	ENST00000282397.4	-	30	4175	c.3924C>A	c.(3922-3924)acC>acA	p.T1308T	FLT1_ENST00000540678.1_Silent_p.T526T|FLT1_ENST00000543394.1_Silent_p.T331T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1308					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.T1308T(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGTGGTCGTAGGTGAACCTGC	0.572000													9	101					4.68919e-08	6.08311e-08	0.008291	1	0
OR4A47	403253	broad.mit.edu	37	11	48510487	48510487	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:48510487C>T	ENST00000446524.1	+	1	219	c.143C>T	c.(142-144)aCt>aTt	p.T48I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTGACCGTAACTGTCAGTGAG	0.403000													5	49					0	0	0.003080	0	0
COL11A1	1301	broad.mit.edu	37	1	103544219	103544219	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:103544219G>T	ENST00000358392.2	-	3	800	c.483C>A	c.(481-483)gaC>gaA	p.D161E	COL11A1_ENST00000512756.1_Missense_Mutation_p.D161E|COL11A1_ENST00000370096.3_Missense_Mutation_p.D161E|COL11A1_ENST00000353414.4_Missense_Mutation_p.D161E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	161	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.D161E(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTACTTCCCGTCAGCGATGT	0.363000													7	39					2.0095e-06	2.45998e-06	0.001984	1	0
PIK3R5	23533	broad.mit.edu	37	17	8809052	8809052	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:8809052G>T	ENST00000447110.1	-	4	331	c.207C>A	c.(205-207)gtC>gtA	p.V69V	PIK3R5_ENST00000581552.1_Silent_p.V69V|PIK3R5_ENST00000584803.1_Silent_p.V69V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	69	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus		p.V69V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCTTCTCCTGGACCTGTGGAG	0.562000													4	4					0.00116845	0.00127745	0.021553	1	0
SMARCA1	6594	broad.mit.edu	37	X	128650469	128650469	+	Silent	SNP	G	G	T	rs145557250	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:128650469G>T	ENST00000371122.4	-	3	396	c.267C>A	c.(265-267)gcC>gcA	p.A89A	SMARCA1_ENST00000371121.3_Silent_p.A89A|SMARCA1_ENST00000371123.1_Silent_p.A89A|SMARCA1_ENST00000478420.1_Intron	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	89					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	p.A89A(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTGCTCGGTCGGCTTTCTAAT	0.343000													16	83					2.32078e-09	3.16002e-09	0.024245	1	0
DCC	1630	broad.mit.edu	37	18	51025666	51025666	+	Splice_Site	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:51025666A>G	ENST00000442544.2	+	27	4514		c.e27-1		DCC_ENST00000581580.1_Splice_Site|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma						apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.?(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCCACTGCAGCAGTGAGTG	0.498000													7	36					0	0	0.003080	0	0
OR2T33	391195	broad.mit.edu	37	1	248436752	248436752	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:248436752G>T	ENST00000318021.2	-	1	386	c.365C>A	c.(364-366)gCg>gAg	p.A122E		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A122E(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAGACAGCCGCATAGCGGTC	0.612000													5	78					5.18039e-06	6.2392e-06	0.003080	1	0
DSPP	1834	broad.mit.edu	37	4	88533716	88533716	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:88533716G>T	ENST00000399271.1	+	4	498	c.378G>T	c.(376-378)ggG>ggT	p.G126G	DSPP_ENST00000282478.7_Silent_p.G126G|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	126					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.G126G(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAATACATGGGAAAGAAGAAA	0.413000													8	39					1.12685e-05	1.33862e-05	0.004482	1	0
MGAT4A	11320	broad.mit.edu	37	2	99242232	99242232	+	Missense_Mutation	SNP	C	C	A	rs146487281		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:99242232C>A	ENST00000393487.1	-	15	1848	c.1535G>T	c.(1534-1536)cGa>cTa	p.R512L	MGAT4A_ENST00000264968.2_Missense_Mutation_p.R512L|MGAT4A_ENST00000409391.1_Missense_Mutation_p.R512L|MGAT4A_ENST00000414521.2_Missense_Mutation_p.R384L	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	512					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.R512L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AACTGAAAGTCGAAAGGCTGA	0.338000													8	39					3.09899e-07	3.88491e-07	0.004482	1	0
NPY5R	4889	broad.mit.edu	37	4	164271759	164271759	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:164271759G>T	ENST00000515560.1	+	4	1856	c.334G>T	c.(334-336)Gtc>Ttc	p.V112F	NPY5R_ENST00000506953.1_Missense_Mutation_p.V112F|NPY5R_ENST00000338566.3_Missense_Mutation_p.V112F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	112					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.V112F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GTTTGGCAAAGTCATGTGCCA	0.383000													25	198					4.4004e-07	5.49655e-07	0.018920	1	0
HBB	3043	broad.mit.edu	37	11	5246896	5246896	+	Missense_Mutation	SNP	G	G	T	rs35323748		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:5246896G>T	ENST00000335295.3	-	3	551	c.376C>A	c.(376-378)Cca>Aca	p.P126T		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	126					blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	p.P126T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	GCCTGCACTGGTGGGGTGAAT	0.498000									Sickle Cell Trait				23	55					7.41877e-09	9.85704e-09	0.012319	1	0
LTBP1	4052	broad.mit.edu	37	2	33484662	33484662	+	Silent	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:33484662T>A	ENST00000404816.2	+	13	2756	c.2403T>A	c.(2401-2403)acT>acA	p.T801T	LTBP1_ENST00000402934.1_Silent_p.T422T|LTBP1_ENST00000390003.4_Silent_p.T475T|LTBP1_ENST00000354476.3_Silent_p.T801T|LTBP1_ENST00000407925.1_Silent_p.T475T|LTBP1_ENST00000404525.1_Silent_p.T422T|LTBP1_ENST00000418533.2_Silent_p.T475T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	801					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.T801T(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAGTGGCAACTGCACCCCCTG	0.294000													35	97					0	0	0.008740	0	0
FAT4	79633	broad.mit.edu	37	4	126336650	126336650	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:126336650G>C	ENST00000394329.3	+	5	6545	c.6532G>C	c.(6532-6534)Gca>Cca	p.A2178P	FAT4_ENST00000335110.5_Missense_Mutation_p.A476P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2178	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A2178S(2)|p.A2178P(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAAGTGTTCGCAGCAGATGG	0.398000													14	82					0	0	0.024245	0	0
DIDO1	11083	broad.mit.edu	37	20	61512318	61512318	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:61512318G>A	ENST00000266070.4	-	16	5315	c.4990C>T	c.(4990-4992)Cct>Tct	p.P1664S	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1664S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1664					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.P1664S(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCGCCGCAAGGCGGTGTGGGC	0.731000													4	20					0	0	0.009096	0	0
NELFCD	51497	broad.mit.edu	37	20	57565975	57565975	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:57565975G>C	ENST00000602795.1	+	8	901	c.853G>C	c.(853-855)Gcc>Ccc	p.A285P	NELFCD_ENST00000344018.3_Missense_Mutation_p.A276P					negative elongation factor complex member C/D									p.A276P(1)									AGGTCATGACGCCAGTCAGAT	0.507000													63	78					0	0	0.014410	0	0
RP1L1	94137	broad.mit.edu	37	8	10465982	10465982	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:10465982C>A	ENST00000382483.3	-	4	5849	c.5626G>T	c.(5626-5628)Gcc>Tcc	p.A1876S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1876					intracellular signal transduction			p.A1876S(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTCTGGGGCCTCTACATCT	0.622000													57	163					1.3268e-25	2.46238e-25	0.014410	1	0
OR4A15	81328	broad.mit.edu	37	11	55136162	55136162	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:55136162G>T	ENST00000314706.3	+	1	803	c.803G>T	c.(802-804)tGt>tTt	p.C268F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C268S(1)|p.C268F(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTCTACACCTGTGCATCCCAC	0.423000													27	135					2.79863e-10	3.94456e-10	0.024334	1	0
FRAS1	80144	broad.mit.edu	37	4	79399131	79399131	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:79399131G>C	ENST00000264895.6	+	55	8454	c.8014G>C	c.(8014-8016)Gat>Cat	p.D2672H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2667	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.D2673H(1)|p.D2672H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGATACCGAGGATGAACCCAC	0.453000													5	6					0	0	0.014758	0	0
MEGF10	84466	broad.mit.edu	37	5	126771052	126771052	+	Splice_Site	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:126771052G>A	ENST00000274473.6	+	17	2242		c.e17-1		MEGF10_ENST00000503335.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.?(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTTATTCACAGTGTGTCCCAG	0.458000													13	19					0	0	0.016723	0	0
CREG2	200407	broad.mit.edu	37	2	101967402	101967402	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:101967402C>A	ENST00000324768.4	-	4	993	c.856G>T	c.(856-858)Gtt>Ttt	p.V286F		NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	286						extracellular region	FMN binding	p.V286F(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TTTCTGGGAACTGCTTTGAAA	0.418000													36	135					7.63091e-17	1.28996e-16	0.007835	1	0
KIAA1199	57214	broad.mit.edu	37	15	81181089	81181089	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:81181089G>C	ENST00000394685.3	+	9	1335	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	KIAA1199_ENST00000220244.3_Missense_Mutation_p.E306Q|KIAA1199_ENST00000356249.5_Missense_Mutation_p.E306Q			Q8WUJ3	K1199_HUMAN	KIAA1199	306								p.E306Q(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTTCCAGACAGAGCATGGCGA	0.473000													10	122					0	0	0.016723	0	0
OPRL1	4987	broad.mit.edu	37	20	62730101	62730101	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:62730101G>T	ENST00000349451.3	+	6	1474	c.1062G>T	c.(1060-1062)aaG>aaT	p.K354N	OPRL1_ENST00000355631.4_Missense_Mutation_p.K354N|OPRL1_ENST00000336866.2_Missense_Mutation_p.K354N	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	354					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	p.K354N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCATTGCCAAGGACGTGGCCC	0.642000													14	18					1.05317e-09	1.44915e-09	0.020292	1	0
SPIRE1	56907	broad.mit.edu	37	18	12496079	12496079	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:12496079C>A	ENST00000409402.4	-	7	1262	c.995G>T	c.(994-996)cGg>cTg	p.R332L	SPIRE1_ENST00000453447.2_Missense_Mutation_p.R212L|SPIRE1_ENST00000383356.2_Missense_Mutation_p.R173L|SPIRE1_ENST00000410092.3_Missense_Mutation_p.R332L|SPIRE1_ENST00000309836.5_Missense_Mutation_p.R135L	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	332						cytoskeleton|perinuclear region of cytoplasm	actin binding	p.R173L(1)|p.R332L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CTTTTTTAACCGAGGGGGAAT	0.373000													13	71					2.68362e-12	4.05654e-12	0.013537	1	0
FCER1A	2205	broad.mit.edu	37	1	159277583	159277583	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:159277583T>C	ENST00000368115.1	+	6	734	c.635T>C	c.(634-636)gTg>gCg	p.V212A	FCER1A_ENST00000368114.1_Missense_Mutation_p.V179A	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	212						integral to plasma membrane		p.V212A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CCATTGTTGGTGGTGATTCTG	0.408000													22	104					0	0	0.027356	0	0
NUP210	23225	broad.mit.edu	37	3	13360750	13360750	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:13360750C>A	ENST00000254508.5	-	38	5541	c.5459G>T	c.(5458-5460)gGg>gTg	p.G1820V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1820					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.G1820V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GACCGCTGTCCCAGCCAACAG	0.562000													9	6					0.000274275	0.000304978	0.004482	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296446	28296446	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:28296446G>T	ENST00000284987.5	-	8	2840	c.2719C>A	c.(2719-2721)Cgg>Agg	p.R907R	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	907	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R907R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTAACTTCCGGTTTCCATCC	0.527000													19	41					6.94344e-10	9.66891e-10	0.006122	1	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691968	31691968	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr21:31691968A>T	ENST00000360542.3	-	1	639	c.386T>A	c.(385-387)cTc>cAc	p.L129H		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	129						intermediate filament		p.L129H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GTAACTATTGAGCAGCGGCCT	0.532000													26	139					0	0	0.021523	0	0
NRXN1	9378	broad.mit.edu	37	2	51254933	51254933	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:51254933G>A	ENST00000404971.1	-	2	1818	c.479C>T	c.(478-480)cCg>cTg	p.P160L	NRXN1_ENST00000402717.3_Missense_Mutation_p.P160L|NRXN1_ENST00000401669.2_Missense_Mutation_p.P160L|NRXN1_ENST00000406316.2_Missense_Mutation_p.P160L|NRXN1_ENST00000406859.3_Missense_Mutation_p.P160L|NRXN1_ENST00000405581.1_Missense_Mutation_p.P160L|NRXN1_ENST00000405472.3_Missense_Mutation_p.P160L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	160	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.P160M(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGCAGTTCCGGGGGCAGCCC	0.662000													8	7					0	0	0.004482	0	0
WWC1	23286	broad.mit.edu	37	5	167850650	167850650	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:167850650A>G	ENST00000265293.4	+	11	1889	c.1387A>G	c.(1387-1389)Act>Gct	p.T463A	WWC1_ENST00000521089.1_Missense_Mutation_p.T463A	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	463					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.T463A(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGCCAGCTTCACTGACCTCTA	0.642000													35	38					0	0	0.021022	0	0
CBLN4	140689	broad.mit.edu	37	20	54578972	54578972	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:54578972T>C	ENST00000064571.2	-	1	1556	c.256A>G	c.(256-258)Atg>Gtg	p.M86V		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	86	C1q.					cell junction|extracellular region|synapse		p.M86V(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TTGTTGCTCATCTCGGATGGC	0.647000													47	262					0	0	0.014410	0	0
PM20D1	148811	broad.mit.edu	37	1	205809437	205809437	+	Silent	SNP	G	G	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:205809437G>A	ENST00000367136.4	-	10	1103	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	353						extracellular region	metal ion binding|peptidase activity	p.P353P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GGGCCACTGGGGGGATGACAT	0.498000													13	23					0	0	0.020292	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129681	3129681	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr20:3129681T>C	ENST00000380266.3	-	2	357	c.36A>G	c.(34-36)agA>agG	p.R12R	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	12					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.R12R(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ATGCTCGGTATCTTACAAGTT	0.473000													32	38					0	0	0.012213	0	0
CELSR1	9620	broad.mit.edu	37	22	46931390	46931390	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:46931390C>A	ENST00000262738.3	-	1	1677	c.1678G>T	c.(1678-1680)Gac>Tac	p.D560Y	CELSR1_ENST00000395964.1_Missense_Mutation_p.D560Y	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	560	Cadherin 3.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	p.D560Y(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCTCGTTGTCGTTGACATCC	0.607000													9	35					0.00448238	0.004795	0.004482	1	0
CDH8	1006	broad.mit.edu	37	16	61823358	61823358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:61823358C>A	ENST00000577390.1	-	8	2260	c.1306G>T	c.(1306-1308)Gag>Tag	p.E436*	CDH8_ENST00000299345.6_Nonsense_Mutation_p.E436*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.E436*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.E436*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	436	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E436*(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AACTGCCTCTCCAGGTCAGTG	0.418000													18	23					0.000132079	0.000149251	0.008871	1	0
EGFLAM	133584	broad.mit.edu	37	5	38338879	38338879	+	Missense_Mutation	SNP	C	C	A	rs74624102	byFrequency	TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:38338879C>A	ENST00000322350.5	+	3	633	c.287C>A	c.(286-288)aCc>aAc	p.T96N	EGFLAM_ENST00000354891.3_Missense_Mutation_p.T96N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	96	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse		p.T96N(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACATCCCGACCACGGTGAGT	0.522000													10	21					3.86212e-05	4.45596e-05	0.008291	1	0
MYH7	4625	broad.mit.edu	37	14	23893161	23893161	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:23893161C>G	ENST00000355349.3	-	23	3039	c.2877G>C	c.(2875-2877)ctG>ctC	p.L959L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	959					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L959L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCAGTGTCAGCTCCAGAT	0.537000													17	67					0	0	0.006122	0	0
UNC13C	440279	broad.mit.edu	37	15	54305103	54305103	+	Translation_Start_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:54305103G>T	ENST00000545554.1	+	1	3	c.3G>T	c.(1-3)atG>atT	p.M1I	UNC13C_ENST00000260323.11_Start_Codon_SNP_p.M1I|UNC13C_ENST00000537900.1_Start_Codon_SNP_p.M1I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.M1I(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCTCTCCATGGTGGCTAATT	0.358000													7	30					0.000157383	0.000176887	0.003080	1	0
SNRNP200	23020	broad.mit.edu	37	2	96950178	96950178	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:96950178C>A	ENST00000323853.5	-	31	4387	c.4310G>T	c.(4309-4311)cGg>cTg	p.R1437L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1437	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R1437L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTTCCATCGCCGGGAAAGTAT	0.557000													27	43					4.7796e-09	6.41586e-09	0.024334	1	0
PTCHD1	139411	broad.mit.edu	37	X	23412273	23412273	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:23412273C>A	ENST00000379361.4	+	3	3498	c.2638C>A	c.(2638-2640)Cgt>Agt	p.R880S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	880					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	p.R880S(1)|p.R775S(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CGATAGTACCCGTGTGGTTGA	0.378000													27	70					1.17739e-12	1.80857e-12	0.027356	1	0
FSIP2	401024	broad.mit.edu	37	2	186673098	186673098	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:186673098C>T	ENST00000343098.5	+	17	19332	c.19332C>T	c.(19330-19332)ttC>ttT	p.F6444F	FSIP2_ENST00000424728.1_Silent_p.F6355F	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.F1053F(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGGCCTTGTTCTTGGCTAAAC	0.333000													9	23					0	0	0.006214	0	0
BRS3	680	broad.mit.edu	37	X	135570363	135570363	+	Silent	SNP	T	T	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:135570363T>C	ENST00000370648.3	+	1	318	c.90T>C	c.(88-90)gaT>gaC	p.D30D		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	30					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	p.D30D(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTTCTAACGATAACACAAATA	0.413000													43	42					0	0	0.008740	0	0
WDR7	23335	broad.mit.edu	37	18	54444111	54444111	+	Splice_Site	SNP	G	G	T	rs113781282		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr18:54444111G>T	ENST00000254442.3	+	17	3158	c.2947_splice	c.e17+1	p.G983_splice	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	983								p.G983C(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGTAAATGAAGGTATCTCTCT	0.418000													27	107					7.38237e-10	1.02527e-09	0.006320	1	0
KIAA1244	57221	broad.mit.edu	37	6	138584671	138584671	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr6:138584671T>A	ENST00000251691.4	+	12	2217	c.2051T>A	c.(2050-2052)cTc>cAc	p.L684H		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	684	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.L613H(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAAGGCCTCCTCCCTCGGCTC	0.557000													7	53					0	0	0.003080	0	0
PELI2	57161	broad.mit.edu	37	14	56645093	56645093	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:56645093A>G	ENST00000267460.4	+	2	404	c.118A>G	c.(118-120)Aaa>Gaa	p.K40E		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	40					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	p.K40E(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AGGACGGAGGAAAAGTAGATT	0.468000													13	64					0	0	0.024245	0	0
CSMD3	114788	broad.mit.edu	37	8	113516078	113516078	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr8:113516078T>A	ENST00000297405.5	-	30	5268	c.5024A>T	c.(5023-5025)cAt>cTt	p.H1675L	CSMD3_ENST00000352409.3_Missense_Mutation_p.H1675L|CSMD3_ENST00000343508.3_Missense_Mutation_p.H1635L|CSMD3_ENST00000455883.2_Missense_Mutation_p.H1571L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1675	CUB 9.					integral to membrane|plasma membrane		p.H1675L(1)|p.H1635L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAAGCCAAATGCATTGTATT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	74					0	0	0.008291	0	0
COL4A5	1287	broad.mit.edu	37	X	107911660	107911660	+	Missense_Mutation	SNP	C	C	A	rs104886393		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:107911660C>A	ENST00000328300.6	+	41	3960	c.3716C>A	c.(3715-3717)cCt>cAt	p.P1239H	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1239H	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1239	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.P1239H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCCCCAGGCCCTCCTGGTTCT	0.602000									Alport syndrome with Diffuse Leiomyomatosis				5	32					0.014758	0.0154389	0.014758	1	0
UGT2B28	54490	broad.mit.edu	37	4	70156417	70156417	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr4:70156417C>A	ENST00000335568.5	+	5	1200	c.1198C>A	c.(1198-1200)Cct>Act	p.P400T	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	400					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.P400N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTGGGATCAACCTGATAACAT	0.453000													45	140					6.68952e-21	1.18862e-20	0.013114	1	0
ZNF423	23090	broad.mit.edu	37	16	49669980	49669980	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:49669980G>T	ENST00000561648.1	-	4	3136	c.3083C>A	c.(3082-3084)aCa>aAa	p.T1028K	ZNF423_ENST00000563137.2_Missense_Mutation_p.T968K|ZNF423_ENST00000562871.1_Missense_Mutation_p.T968K|ZNF423_ENST00000535559.1_Missense_Mutation_p.T911K|ZNF423_ENST00000562520.1_Missense_Mutation_p.T968K|ZNF423_ENST00000567169.1_Missense_Mutation_p.T911K|ZNF423_ENST00000262383.2_Missense_Mutation_p.T1028K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1028					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.T1028K(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGAAGTGACTGTCTGCATGCA	0.612000													7	18					0.00198382	0.00214417	0.001984	1	0
NPHP3	27031	broad.mit.edu	37	3	132407565	132407565	+	Silent	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:132407565A>T	ENST00000337331.5	-	21	3140	c.3054T>A	c.(3052-3054)gcT>gcA	p.A1018A	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1018					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	p.A1018A(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGCACCATAAGCATTTTCTG	0.413000													25	259					0	0	0.027356	0	0
CPD	1362	broad.mit.edu	37	17	28772927	28772927	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:28772927G>T	ENST00000225719.4	+	12	2838	c.2762G>T	c.(2761-2763)cGc>cTc	p.R921L	CPD_ENST00000543464.2_Missense_Mutation_p.R674L	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	921	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	p.R921L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTCATGTTACGCTCCTCCTCA	0.408000													15	89					9.16793e-09	1.21656e-08	0.004990	1	0
ARID2	196528	broad.mit.edu	37	12	46233111	46233111	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:46233111G>T	ENST00000334344.6	+	11	1502		c.e11-1		ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000422737.1_Splice_Site|ARID2_ENST00000444670.1_Intron	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATTTATTTTAGACATGTTAGT	0.333000			"""N, S, F"""		hepatocellular carcinoma								14	46					1.05317e-09	1.44915e-09	0.020292	1	0
CPA3	1359	broad.mit.edu	37	3	148614351	148614351	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:148614351A>T	ENST00000296046.3	+	11	1163	c.1111A>T	c.(1111-1113)Atc>Ttc	p.I371F	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	371					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.I371F(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGACCTGGGCATCAAACACAC	0.403000													24	97					0	0	0.007291	0	0
IQCB1	9657	broad.mit.edu	37	3	121489381	121489381	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:121489381C>G	ENST00000310864.6	-	15	1822	c.1608G>C	c.(1606-1608)gaG>gaC	p.E536D	IQCB1_ENST00000349820.6_Missense_Mutation_p.E403D	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	536					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	p.E536D(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TTAGGAAGAGCTCAGGTTCTT	0.522000													6	374					0	0	0.021553	0	0
ZNF816	125893	broad.mit.edu	37	19	53454041	53454041	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:53454041T>A	ENST00000357666.4	-	5	1287	c.987A>T	c.(985-987)agA>agT	p.R329S	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R329S|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R329S(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TACGATGGCATCTAAGGGATG	0.423000													53	159					0	0	0.014410	0	0
AOC1	26	broad.mit.edu	37	7	150553925	150553925	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:150553925T>G	ENST00000493429.1	+	4	951	c.367T>G	c.(367-369)Tgc>Ggc	p.C123G	AOC1_ENST00000416793.2_Missense_Mutation_p.C123G|AOC1_ENST00000467291.1_Missense_Mutation_p.C123G|AOC1_ENST00000360937.4_Missense_Mutation_p.C123G					amine oxidase, copper containing 1									p.C123G(1)									GCCAGGGCCCTGCTACATGCG	0.622000													4	84					0	0	0.014758	0	0
FAM169B	283777	broad.mit.edu	37	15	98995130	98995130	+	Silent	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:98995130C>G	ENST00000558256.1	-	5	543	c.294G>C	c.(292-294)cgG>cgC	p.R98R	FAM169B_ENST00000332908.4_Silent_p.R98R	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	98								p.R98R(1)		large_intestine(3)|lung(3)|urinary_tract(1)	7						CACAGAAGTCCCGCAGCATGG	0.587000													4	12					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179408023	179408023	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:179408023G>T	ENST00000589042.1	-	347	96901	c.96677C>A	c.(96676-96678)cCa>cAa	p.P32226Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P30585Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P29658Q|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P23286Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23353Q|TTN_ENST00000460472.2_Missense_Mutation_p.P23161Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30585	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P23353Q(1)|p.P23286Q(1)|p.P29656Q(1)|p.P23161Q(1)|p.P29658Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCGTAGAGTGGTTTTTCCCA	0.502000													16	100					4.7546e-09	6.39053e-09	0.028581	1	0
XPOT	11260	broad.mit.edu	37	12	64815186	64815186	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:64815186G>C	ENST00000332707.5	+	9	1544	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	339	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.E339Q(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		ACTAATTCATGAGGATGATGA	0.299000													34	93					0	0	0.013726	0	0
EZH1	2145	broad.mit.edu	37	17	40872313	40872313	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:40872313C>G	ENST00000428826.2	-	7	763	c.642G>C	c.(640-642)aaG>aaC	p.K214N	EZH1_ENST00000592743.1_Missense_Mutation_p.K214N|EZH1_ENST00000590078.1_Missense_Mutation_p.K144N|EZH1_ENST00000585893.1_Missense_Mutation_p.K174N|EZH1_ENST00000435174.1_Missense_Mutation_p.K75N|EZH1_ENST00000415827.2_Missense_Mutation_p.K205N			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	214					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	p.K214N(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GTCGCTTTCTCTTTCTTGTTA	0.448000													20	84					0	0	0.016522	0	0
ZEB2	9839	broad.mit.edu	37	2	145187456	145187456	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:145187456A>G	ENST00000558170.2	-	3	1395	c.211T>C	c.(211-213)Tcc>Ccc	p.S71P	ZEB2_ENST00000539609.3_Missense_Mutation_p.S71P|ZEB2_ENST00000409487.3_Missense_Mutation_p.S71P|ZEB2_ENST00000303660.4_Missense_Mutation_p.S71P	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	71						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.S71P(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACGTGTGGGGAGGACTCATGG	0.522000													15	60					0	0	0.028581	0	0
NRXN1	9378	broad.mit.edu	37	2	50733715	50733715	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:50733715A>T	ENST00000404971.1	-	14	3874	c.2535T>A	c.(2533-2535)aaT>aaA	p.N845K	NRXN1_ENST00000402717.3_Missense_Mutation_p.N797K|NRXN1_ENST00000401669.2_Missense_Mutation_p.N805K|NRXN1_ENST00000406316.2_Missense_Mutation_p.N805K|NRXN1_ENST00000406859.3_Missense_Mutation_p.N805K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.N797K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	805	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.N845K(1)|p.N846K(1)|p.N805K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTCGTTATCATTGAGGTTAT	0.453000													19	19					0	0	0.008871	0	0
PIK3R4	30849	broad.mit.edu	37	3	130427168	130427168	+	Missense_Mutation	SNP	C	C	A	rs151220675		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:130427168C>A	ENST00000356763.3	-	10	3057	c.2500G>T	c.(2500-2502)Gtt>Ttt	p.V834F		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	834					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.V834F(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTGGTTTTAACAAGATCAACT	0.388000													21	241					3.10358e-05	3.65354e-05	0.014323	1	0
AIFM1	9131	broad.mit.edu	37	X	129272583	129272583	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:129272583C>A	ENST00000287295.3	-	9	1182	c.952G>T	c.(952-954)Gct>Tct	p.A318S	AIFM1_ENST00000319908.3_Missense_Mutation_p.A314S|AIFM1_ENST00000535724.1_Missense_Mutation_p.A231S|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	318	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.A318S(1)|p.A314S(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CTGCCAAGAGCACAGGCCAGT	0.453000													20	97					7.45023e-12	1.1085e-11	0.010504	1	0
TMIGD2	126259	broad.mit.edu	37	19	4292732	4292732	+	Nonsense_Mutation	SNP	G	G	T	rs144046862		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:4292732G>T	ENST00000301272.2	-	5	758	c.713C>A	c.(712-714)tCa>tAa	p.S238*	TMIGD2_ENST00000595645.1_Nonsense_Mutation_p.S234*|TMIGD2_ENST00000600349.1_Nonsense_Mutation_p.S66*|TMIGD2_ENST00000600114.1_Nonsense_Mutation_p.S118*	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	238	Pro-rich.					integral to membrane		p.S238*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		gcagggTCTTGACGCCAGGTG	0.677000													23	21					1.96895e-08	2.57023e-08	0.016522	1	0
RPS6KA1	6195	broad.mit.edu	37	1	26887237	26887237	+	Silent	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:26887237G>T	ENST00000374168.2	+	15	1390	c.1236G>T	c.(1234-1236)ctG>ctT	p.L412L	RPS6KA1_ENST00000530003.1_Silent_p.L396L|RPS6KA1_ENST00000526792.1_Silent_p.L320L|RPS6KA1_ENST00000531382.1_Silent_p.L421L|RPS6KA1_ENST00000374162.2_Silent_p.L320L|RPS6KA1_ENST00000374166.4_Silent_p.L401L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	412					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.L421L(1)		lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGAAGAACCTGGTTTTTAGTG	0.537000													28	43					5.77227e-19	1.00341e-18	0.008361	1	0
GHDC	84514	broad.mit.edu	37	17	40342359	40342359	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:40342359C>G	ENST00000414034.3	-	9	1505	c.1307G>C	c.(1306-1308)aGg>aCg	p.R436T	GHDC_ENST00000587427.1_Intron|GHDC_ENST00000436923.2_Missense_Mutation_p.R436T|GHDC_ENST00000301671.8_Intron|GHDC_ENST00000428494.2_Intron|GHDC_ENST00000593209.1_Intron	NM_001142623.1	NP_001136095.1	Q8N2G8	GHDC_HUMAN	GH3 domain containing	356						endoplasmic reticulum|nuclear envelope		p.R436T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GTCCTCTGCCCTATCTGTTCT	0.507000													5	16					0	0	0.014758	0	0
LZTR1	8216	broad.mit.edu	37	22	21349315	21349315	+	Splice_Site	SNP	G	G	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:21349315G>T	ENST00000215739.8	+	16	2301	c.1942_splice	c.e16+1	p.G648_splice	LZTR1_ENST00000389355.3_Splice_Site_p.G629_splice|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	648					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.G648C(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGTGGACATTGGTAGGGAGCC	0.647000													343	36					4.40133e-195	8.82805e-195	0.014410	1	0
TSC1	7248	broad.mit.edu	37	9	135797337	135797337	+	Missense_Mutation	SNP	C	C	G	rs118203395		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr9:135797337C>G	ENST00000298552.3	-	7	753	c.532G>C	c.(532-534)Gtc>Ctc	p.V178L	TSC1_ENST00000403810.1_Missense_Mutation_p.V178L|TSC1_ENST00000440111.2_Missense_Mutation_p.V178L|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000545250.1_Missense_Mutation_p.V127L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	178					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.V178L(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGGAGATGGACGAGATAGACT	0.463000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				32	34					0	0	0.010818	0	0
PKD1L1	168507	broad.mit.edu	37	7	47852796	47852796	+	Silent	SNP	C	C	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:47852796C>T	ENST00000289672.2	-	49	7319	c.7269G>A	c.(7267-7269)gaG>gaA	p.E2423E	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2423					cell-cell adhesion	integral to membrane		p.E2423E(2)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGTTTTGGTTCTCTGGGTCTA	0.562000													54	65					0	0	0.014410	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186862291	186862291	+	Splice_Site	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:186862291delG	ENST00000367466.3	+	4	416	c.264_splice	c.e4+1	p.E88_splice	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Splice_Site_p.E88_splice	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	88	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ATGTTTTGGAGGTAAGTGAAC	0.373													46	241	---	---	---	---					
KIF26B	55083	broad.mit.edu	37	1	245851437	245851437	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:245851437delC	ENST00000366518.4	+	9	4113	c.4009delC	c.(4009-4011)ccfs	p.P1338fs	KIF26B_ENST00000407071.2_Frame_Shift_Del_p.P1719fs			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1719					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGGGACCTCGCCCCCCAGCTC	0.771													4	7	---	---	---	---					
OR2T6	254879	broad.mit.edu	37	1	248551620	248551621	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr1:248551620_248551621insT	ENST00000355728.2	+	1	711_712	c.711_712insT	c.(709-714)gcttgcfs	p.C238fs		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAAGAAGGCCTTTGCCACCTG	0.505													19	110	---	---	---	---					
GALM	130589	broad.mit.edu	37	2	38908485	38908487	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:38908485_38908487delGAA	ENST00000272252.5	+	3	661_663	c.409_411delGAA	c.(409-411)del	p.E138del	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	138					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				TCCAGATGGTGAAGAAGGCTACC	0.532													8	199	---	---	---	---					
LRRTM4	80059	broad.mit.edu	37	2	77745528	77745528	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:77745528delC	ENST00000409088.3	-	3	1881	c.1467delG	c.(1465-1467)aafs	p.K489fs	LRRTM4_ENST00000409093.1_Frame_Shift_Del_p.K489fs|LRRTM4_ENST00000409911.1_Frame_Shift_Del_p.K490fs|LRRTM4_ENST00000409884.1_Frame_Shift_Del_p.K489fs|LRRTM4_ENST00000409282.1_Frame_Shift_Del_p.K490fs	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	489						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGTTTGTAGGCTTGTAGTCCA	0.463													17	26	---	---	---	---					
THSD7B	80731	broad.mit.edu	37	2	138169367	138169367	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:138169367delG	ENST00000409968.1	+	14	3062	c.2884delG	c.(2884-2886)gcfs	p.G962fs	THSD7B_ENST00000272643.3_Frame_Shift_Del_p.G962fs|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Frame_Shift_Del_p.G931fs					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATGTGGAGAAGGCCTGCGCTT	0.512													17	51	---	---	---	---					
HJURP	55355	broad.mit.edu	37	2	234746241	234746242	+	Frame_Shift_Ins	INS	-	-	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr2:234746241_234746242insA	ENST00000411486.2	-	9	2293_2294	c.2228_2229insT	c.(2227-2229)tgafs	p.*743fs	HJURP_ENST00000432087.1_Frame_Shift_Ins_p.*689fs|HJURP_ENST00000441687.1_Frame_Shift_Ins_p.*658fs	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	743					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TTTTAGTTTCCAATTTTTCTAG	0.332													11	64	---	---	---	---					
OR5H1	26341	broad.mit.edu	37	3	97852271	97852272	+	Frame_Shift_Ins	INS	-	-	A			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:97852271_97852272insA	ENST00000354565.2	+	1	730_731	c.730_731insA	c.(730-732)tctfs	p.S244fs	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CTGTGGAGCCCATCTCTTCTCT	0.411													26	42	---	---	---	---					
ABI3BP	25890	broad.mit.edu	37	3	100645145	100645145	+	Splice_Site	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:100645145delC	ENST00000471714.1	-	2	390		c.e2+1		ABI3BP_ENST00000532144.1_Splice_Site|ABI3BP_ENST00000495063.1_Splice_Site|ABI3BP_ENST00000284322.5_Splice_Site			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein							extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AAACACCTTACCAACTATAGC	0.453													20	37	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294													3	6	---	---	---	---					
MEGF10	84466	broad.mit.edu	37	5	126732373	126732373	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr5:126732373delG	ENST00000274473.6	+	7	829	c.562delG	c.(562-564)gtfs	p.G188fs	MEGF10_ENST00000508365.1_Frame_Shift_Del_p.G188fs|MEGF10_ENST00000503335.2_Frame_Shift_Del_p.G188fs|MEGF10_ENST00000418761.2_Frame_Shift_Del_p.G188fs	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	188	EGF-like 3.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGGCACCTATGGTAACGACTG	0.632													28	35	---	---	---	---					
SEMA3E	9723	broad.mit.edu	37	7	83029344	83029345	+	Splice_Site	INS	-	-	T			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr7:83029344_83029345insT	ENST00000307792.3	-	11	1832_1833	c.1366_splice	c.e11+1	p.*456_splice	SEMA3E_ENST00000427262.1_Splice_Site_p.*396_splice	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	456	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTCTCTTTACCTGTCCCAATAA	0.337													48	119	---	---	---	---					
OR56B1	387748	broad.mit.edu	37	11	5757967	5757967	+	Frame_Shift_Del	DEL	T	T	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:5757967delT	ENST00000317121.3	+	1	287	c.221delT	c.(220-222)acfs	p.I74fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TTCCTTGGCATCCTCTGTATG	0.478													15	52	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14063263	14063263	+	RNA	DEL	A	A	-	rs113227652		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:14063263delA	ENST00000310358.7	+	0	1017							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GATTGCAGGGAAAAAAAAAAA	0.423													7	21	---	---	---	---					
CHST1	8534	broad.mit.edu	37	11	45672154	45672154	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr11:45672154delC	ENST00000308064.2	-	4	990	c.320delG	c.(319-321)gcfs	p.G107fs		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	107					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGGGCTCTTGCCCTGGGTGAA	0.627													20	163	---	---	---	---					
TESPA1	9840	broad.mit.edu	37	12	55357547	55357547	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr12:55357547delC	ENST00000524622.1	-	6	881	c.220delG	c.(220-222)acfs	p.D74fs	TESPA1_ENST00000449076.1_Frame_Shift_Del_p.D212fs|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Frame_Shift_Del_p.D74fs|TESPA1_ENST00000531122.1_Frame_Shift_Del_p.D74fs|TESPA1_ENST00000316577.8_Frame_Shift_Del_p.D212fs	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	212																	AGGCAGGGGTCTTCCATTTCA	0.547													17	16	---	---	---	---					
KL	9365	broad.mit.edu	37	13	33591005	33591005	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr13:33591005delG	ENST00000380099.3	+	1	435	c.427delG	c.(427-429)ggfs	p.G143fs	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	143	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCGCGAGCTCGGGGTCACTCA	0.716													25	32	---	---	---	---					
NOVA1	4857	broad.mit.edu	37	14	26918152	26918152	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:26918152delG	ENST00000539517.2	-	5	854	c.537delC	c.(535-537)ccfs	p.P179fs	NOVA1_ENST00000465357.2_Frame_Shift_Del_p.P155fs|NOVA1_ENST00000267422.7_Frame_Shift_Del_p.P57fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	182	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTGTGCTGTTGGGAACTATAA	0.383													15	126	---	---	---	---					
RPL10L	140801	broad.mit.edu	37	14	47120870	47120870	+	Frame_Shift_Del	DEL	G	G	-	rs141953926		TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr14:47120870delG	ENST00000298283.3	-	1	158	c.70delC	c.(70-72)gafs	p.R24fs		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	24					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GGAACCCCTCGGCAGAAACGA	0.542													18	83	---	---	---	---					
TMEM62	80021	broad.mit.edu	37	15	43430790	43430790	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:43430790delG	ENST00000260403.2	+	4	728	c.449delG	c.(448-450)atfs	p.S150fs		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	150						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AATATTCCAAGTCTGGACAGC	0.308													21	33	---	---	---	---					
SH3GL3	6457	broad.mit.edu	37	15	84237419	84237419	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:84237419delC	ENST00000324537.5	+	7	842	c.350delC	c.(349-351)acfs	p.T117fs	SH3GL3_ENST00000434347.1_Frame_Shift_Del_p.T117fs|SH3GL3_ENST00000427482.2_Frame_Shift_Del_p.T109fs|SH3GL3_ENST00000535412.1_Frame_Shift_Del_p.T109fs			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	109	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GAAGACTCCACCTTTGGTGAG	0.502													25	43	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84958415	84958426	+	RNA	DEL	CGAGGACATTGG	CGAGGACATTGG	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:84958415_84958426delCGAGGACATTGG	ENST00000558801.1	-	0	6303_6314																											TCGGGCACCACGAGGACATTGGTGAGGACAGG	0.557													3	3	---	---	---	---					
AGBL1	123624	broad.mit.edu	37	15	86801251	86801251	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr15:86801251delG	ENST00000441037.2	+	8	915	c.820delG	c.(820-822)ggfs	p.G274fs	AGBL1_ENST00000421325.2_Frame_Shift_Del_p.G274fs	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	274	Asp-rich.				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TACTGAAGATGGGAAAGTGGA	0.433													35	134	---	---	---	---					
IL21R	50615	broad.mit.edu	37	16	27455957	27455957	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:27455957delG	ENST00000337929.3	+	6	1075	c.602delG	c.(601-603)cgfs	p.R201fs	IL21R_ENST00000395754.4_Frame_Shift_Del_p.R201fs|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Frame_Shift_Del_p.R201fs|IL21R_ENST00000564089.1_Frame_Shift_Del_p.R201fs	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	201	Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGCAGGTGCGGGCAGGGCCC	0.597			T	BCL6	NHL								38	89	---	---	---	---					
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(853-858)ctccccfs	p.LP285fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599													7	68	---	---	---	---					
COG1	9382	broad.mit.edu	37	17	71204463	71204464	+	Frame_Shift_Ins	INS	-	-	G			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr17:71204463_71204464insG	ENST00000299886.4	+	14	2896_2897	c.2816_2817insG	c.(2815-2817)cgcfs	p.R939fs	FAM104A_ENST00000405159.3_3'UTR|FAM104A_ENST00000403627.3_3'UTR	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	939					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	p.P939L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GTTGTCCCCCCGGCACGCTCCA	0.574													34	47	---	---	---	---					
GRIN2D	2906	broad.mit.edu	37	19	48919404	48919404	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr19:48919404delC	ENST00000263269.3	+	7	1815	c.1727delC	c.(1726-1728)gcfs	p.A576fs		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	576						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TCCCCCTCGGCCTTCCTCGGT	0.647													12	41	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28192956	28192956	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chr22:28192956delC	ENST00000302326.4	-	1	4530	c.3576delG	c.(3574-3576)gcfs	p.A1192fs		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1192							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCCATTCTGCGCCCCTGAGG	0.647			T	ETV6	"""AML, meningioma"""								10	13	---	---	---	---					
RBBP7	5931	broad.mit.edu	37	X	16870709	16870709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4631-01A-01D-1753-08	TCGA-38-4631-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ffc36d-b0b8-4ada-a00a-b48890c0162c	84b00131-cbbe-461f-a006-5277e14b05f9	g.chrX:16870709delG	ENST00000380087.2	-	8	1288	c.928delC	c.(928-930)atfs	p.H310fs	RBBP7_ENST00000380084.4_Frame_Shift_Del_p.H354fs|RBBP7_ENST00000404022.1_Frame_Shift_Del_p.H301fs			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	310					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TCGAAGGTATGGAGTTTTAAT	0.328													21	111	---	---	---	---					
